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Search Results for -
HUMAN TRIFUNCTIONAL PROTEIN DEFICIENCY
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Also searched for:
LCHAD - LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
TRIFUNCTIONAL ENZYME DEFICIENCY
TRIFUNCTIONAL PROTEIN DEFICIENCY
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Repository:
NINDS Repository
(53499)
NIGMS Human Genetic Cell Repository
(18379)
NHGRI Sample Repository for Human Genetic Research
(7492)
NIA Aging Cell Culture Repository
(3947)
AREDS
(2931)
Autism
(362)
HD Community Biorepository
(198)
Allen Cell Collection
(58)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(13)
CIMR Research
(3)
Human Reference Genetic Material Repository
(1)
Collection:
Cerebrovascular Disease
(13841)
Heritable Diseases
(11633)
Control
(10629)
Parkinsonism
(9329)
Epilepsy
(7677)
NHGRI Sample Repository for Human Genetic Research
(7492)
Motor Neuron Disease
(5531)
Tourette Syndrome
(4371)
Dystonia
(3955)
Chromosome Abnormalities
(2935)
Human Variation
(1947)
Apparently Healthy Collection
(1721)
CEPH
(1675)
dbGaP
(1336)
PIGI Consented Sample
(1295)
Old Order Amish Major Affective Disorder
(1009)
University of Georgia Centenarian Study
(853)
Repository Linkage Families
(816)
GRC
(793)
Lysosomal Storage Diseases
(765)
Hybrids
(586)
Muscular Dystrophies
(545)
GeT-RM Samples
(513)
Michigan
(400)
Hereditary Cancers
(394)
Massachusetts
(372)
Pharmacogenetics
(334)
The 90+ Study
(331)
Maryland
(321)
Georgia
(311)
Illinois
(277)
CMD Specific
(268)
Pennsylvania
(266)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(251)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(121)
German Alzheimer Disease
(101)
Animals
(93)
FOXG1
(93)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(53)
Apparently healthy iPSCs
(38)
Alzheimer Disease With No Family History
(31)
Non-Healing Wound Collection
(17)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(14)
Oregon
(14)
Wisconsin
(13)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(6)
Ames Dwarf Mice
(3)
New York
(3)
Prostate Cancer
(3)
Johns Hopkins University
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(55169)
LCL
(25879)
Fibroblast
(4606)
Somatic cell hybrid
(322)
iPSC
(259)
Plasmid
(170)
human variation panel
(69)
Amniotic fluid-derived cell line
(60)
High Molecular Weight DNA
(59)
CEPH family kit
(52)
Adipose stromal cell
(36)
Melanocyte
(35)
Keratinocyte
(32)
Endothelial
(21)
Preprocessed DNA
(21)
hybrid regional mapping panel
(20)
Neuronally-derived
(13)
Tumor-derived cell line
(13)
Antibodies
(10)
Epithelial
(10)
Hybridoma
(7)
Myeloma
(7)
Smooth muscle
(7)
DNA sample pool
(6)
Chorionic villus-derived cell line
(4)
Protein
(4)
gene mutation panel
(4)
hybrid mapping panel
(3)
96 well plate of DNA samples
(2)
Erythroleukemic cell line
(2)
Mesothelial
(2)
Antigen
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Kidney-derived cell line
(1)
Microcell hybrid
(1)
Affected:
Yes
(45328)
No
(18551)
At Risk
(6101)
Unknown
(3164)
Mutation Data Available:
N
(80722)
Y
(6032)
No
(156)
Source:
Whole Blood
(30576)
B-Lymphocyte
(26215)
LCL
(22574)
Fibroblast
(1597)
Skin, Arm
(1029)
Skin, Unspecified
(485)
Somatic cell hybrid
(252)
Skin, Skin
(225)
Skin, Foreskin
(124)
Lung, Lung
(73)
Stem cell
(61)
Amniotic fluid
(59)
Skin, Thigh
(49)
Blood
(27)
Amniotic fluid-derived cell line
(23)
Skin, Abdomen
(17)
Brain striatum
(13)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Buttock
(10)
Umbilical Cord, Umbilical cord
(9)
Artery, iliac
(8)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Skin, Thorax
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Skin, Hip
(6)
Conjunctiva, Conjunctiva
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Epithelial
(4)
Gingival, Gum
(4)
Retina of eye
(4)
Skin, Thorax/abdomen
(4)
Aorta, thoracic
(3)
Chorionic villus-derived cell line
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Ear
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Aorta, abdominal
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Embryonal carcinoma
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Kidney
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Neuroepithelioma
(1)
Osteosarcoma
(1)
Peripheral Vein
(1)
Polyp, Nasal
(1)
Skin, Axilla
(1)
Skin, Breast
(1)
Sex:
Female
(43667)
Male
(40955)
Other
(25)
Race:
White
(57527)
Black/African American
(7520)
More than one race
(1672)
Asian
(1270)
Other
(1047)
Unknown
(780)
Hispanic/Latino
(386)
Caucasian
(317)
American Indian/Alaska Native
(294)
Asiatic Indian
(255)
Chinese
(218)
Native Hawaiian/Other Pacific Islander
(100)
Not Reported
(69)
East Indian
(62)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(72700)
Yes
(14210)
Extended Clinical Data Available:
Yes
(54312)
No
(32598)
Age at Sampling (Years):
55-64
(12141)
45-54
(11326)
65-74
(10021)
35-44
(9036)
25-34
(6651)
5-14
(5848)
75-89
(5792)
15-24
(5453)
0-4
(3552)
90-99
(755)
100+
(240)
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