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Search Results for -
N-ACETYL TRANSFERASE DEFICIENCY
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Also searched for:
ACETYL-COA ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA: HEPARAN-ALPHA-D-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
ACETYL-COA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
HEPARAN-ALPHA-GLUCOSAMINIDE ACETYLTRANSFERASE DEFICIENCY
MPS IIIC
MPS III-C - MUCOPOLYSACCHARIDOSIS III-C
MPS3C
MPSIIIC - MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS III-C
MUCOPOLYSACCHARIDOSIS TYPE IIIC
MUCOPOLYSACCHARIDOSIS, MPS-III-C
SANFILIPPO SYNDROME C
SANFILIPPO SYNDROME, TYPE C
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NINDS Repository
(52571)
NIGMS Human Genetic Cell Repository
(15457)
NHGRI Sample Repository for Human Genetic Research
(7416)
NIA Aging Cell Culture Repository
(4193)
AREDS
(2931)
Autism
(362)
HD Community Biorepository
(202)
Allen Cell Collection
(27)
Orphan Disease Center
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Centers for Disease Control and Prevention Repository
(7)
CIMR Research
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Custom Services
(1)
Human Reference Genetic Material Repository
(1)
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Cerebrovascular Disease
(13837)
Control
(10453)
Heritable Diseases
(8902)
Parkinsonism
(8373)
Epilepsy
(7704)
NHGRI Sample Repository for Human Genetic Research
(7416)
Motor Neuron Disease
(5538)
Tourette Syndrome
(4379)
Dystonia
(3943)
Chromosome Abnormalities
(2806)
Human Variation
(1769)
Apparently Healthy Collection
(1711)
CEPH
(1607)
dbGaP
(1237)
Old Order Amish Major Affective Disorder
(1009)
PIGI Consented Sample
(944)
University of Georgia Centenarian Study
(853)
Repository Linkage Families
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GRC
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Lysosomal Storage Diseases
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Hybrids
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Animals
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Michigan
(400)
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Muscular Dystrophies
(337)
The 90+ Study
(331)
Maryland
(321)
Georgia
(311)
Illinois
(277)
Pennsylvania
(266)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Pharmacogenetics
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Venezuelan Huntington Disease
(251)
Disorders of the Urea Cycle
(221)
Canadian Alzheimer Disease
(213)
Hereditary Cancers
(213)
GeT-RM Samples
(211)
Maturity-Onset Diabetes of the Young
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Alzheimer's Disease
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CMD Specific
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Italian Alzheimer Disease
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Nonhuman Primates
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Stem Cell Collection
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German Alzheimer Disease
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Retinitis Pigmentosa Foundation Collection
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Aged Sib Pairs
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DGAP
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Whole-Genome Sequence
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Ames Dwarf Mice
(47)
FOXG1
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Apparently healthy iPSCs
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Alzheimer Disease With No Family History
(30)
Non-Healing Wound Collection
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Oregon
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Wisconsin
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New York
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Johns Hopkins University
(2)
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(4128)
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(159)
mESC
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High Molecular Weight DNA
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Preprocessed DNA
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Chorionic villus-derived cell line
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Protein
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Erythroleukemic cell line
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Kidney-derived cell line
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Antigen
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Cytoplasmic transfer (cybrid)
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FFPE
(1)
Virus
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Affected:
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(42355)
No
(18211)
At Risk
(6014)
Unknown
(3149)
Mutation Data Available:
N
(81347)
Y
(1837)
Source:
Whole Blood
(30651)
B-Lymphocyte
(24539)
LCL
(21233)
Fibroblast
(1293)
Skin, Arm
(1008)
Skin, Unspecified
(345)
Somatic cell hybrid
(252)
Skin, Skin
(141)
Skin, Foreskin
(123)
Lung, Lung
(105)
Skin, Ear
(65)
Amniotic fluid
(58)
Aorta, thoracic
(57)
Skin, Thigh
(44)
Skin, Abdomen
(31)
Stem cell
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(22)
Blood
(13)
Brain striatum
(13)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Fetal, Unspecified
(11)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Leg
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Skin, Thorax
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Skin, Buttock-thigh
(7)
Breast organoid
(6)
Gonad, Ovary
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Muscle, Unspecified
(5)
Retina of eye
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Skin, Back
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
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Eye
(4)
Gingival, Gum
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Gonad, Testes
(4)
Placental, Placenta
(4)
Skin, Hip
(4)
Chorionic villus-derived cell line
(3)
Kidney, Kidney
(3)
Leiomyoma
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Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Neck
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Skin, Shoulder
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Skin, Thoraco-lumbar junction
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Skin, Umbilical area
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T-Lymphocyte
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Tumor
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Umbilical Cord, Vein, umbilical
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Vein, umbilical
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Adenocarcinoma
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Adrenal cortex tumor
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Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
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Brain, Brain
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Brain, Unspecified
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Cartilage, Unspecified
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Chest
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Cornea, Cornea
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Endothelial
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Ewing sarcoma
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Fetal, Arm
(1)
Heart, Pericardium
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Heart, Unspecified
(1)
Hydatidiform mole
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Ligament, Teeth
(1)
Neuroepithelioma
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Osteosarcoma
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Peripheral Vein
(1)
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(41791)
Male
(39195)
Other
(22)
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(54478)
Black/African American
(7467)
More than one race
(1636)
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(767)
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(353)
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Not Reported
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Asian, Other
(27)
East Indian
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Korean
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Vietnamese
(3)
Japanese
(2)
dbGap Data Available:
No
(69817)
Yes
(13367)
Extended Clinical Data Available:
Yes
(53154)
No
(30030)
Age at Sampling (Years):
55-64
(11735)
45-54
(10983)
65-74
(9618)
35-44
(8613)
25-34
(6238)
75-89
(5520)
5-14
(5312)
15-24
(5069)
0-4
(3395)
90-99
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100+
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