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Search Results for -
PFK%20-%20MUSCLE%20PHOSPHOFRUCTOKINASE%20DEFICIENCY
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Repository:
NIGMS Human Genetic Cell Repository
(1224)
NIA Aging Cell Culture Repository
(431)
NINDS Repository
(287)
NHGRI Sample Repository for Human Genetic Research
(209)
Orphan Disease Center
(7)
Allen Cell Collection
(3)
Collection:
Heritable Diseases
(817)
University of Georgia Centenarian Study
(210)
NHGRI Sample Repository for Human Genetic Research
(209)
Apparently Healthy Collection
(202)
Chromosome Abnormalities
(167)
PIGI Consented Sample
(117)
dbGaP
(110)
Human Variation
(106)
Epilepsy
(104)
Hybrids
(94)
Pharmacogenetics
(73)
Old Order Amish Major Affective Disorder
(69)
CEPH
(68)
Tourette Syndrome
(60)
GeT-RM Samples
(58)
Lysosomal Storage Diseases
(48)
Cerebrovascular Disease
(41)
Control
(41)
GRC
(39)
Repository Linkage Families
(36)
Muscular Dystrophies
(29)
Animals
(27)
Apparently healthy iPSCs
(27)
Parkinsonism
(21)
Alzheimer's Disease
(20)
Hereditary Cancers
(18)
CMD Specific
(16)
Dystonia
(14)
FOXG1
(14)
Venezuelan Huntington Disease
(13)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(12)
Canadian Alzheimer Disease
(10)
Gene-Edited hiPSC
(10)
Nonhuman Primates
(10)
Maturity-Onset Diabetes of the Young
(9)
Alzheimer Disease With No Family History
(6)
DGAP
(6)
Motor Neuron Disease
(6)
German Alzheimer Disease
(4)
Specially Characterized Fibroblasts
(4)
Stem Cell Collection
(4)
Italian Alzheimer Disease
(3)
Retinitis Pigmentosa Foundation Collection
(3)
Whole-Genome Sequence
(3)
Ames Dwarf Mice
(2)
Disorders of the Urea Cycle
(2)
Engineered Cell Cultures
(2)
Non-Healing Wound Collection
(2)
Aged Sib Pairs
(1)
Product:
DNA
(871)
LCL
(749)
Fibroblast
(321)
iPSC
(118)
Somatic cell hybrid
(53)
High Molecular Weight DNA
(13)
Adipose stromal cell
(9)
Amniotic fluid-derived cell line
(6)
Endothelial
(6)
Tumor-derived cell line
(5)
mESC
(4)
Smooth muscle
(2)
Chorionic villus-derived cell line
(1)
FFPE
(1)
Melanocyte
(1)
aging mapping panel
(1)
Affected:
Yes
(862)
No
(764)
Unknown
(98)
At Risk
(29)
Mutation Data Available:
N
(1638)
Y
(522)
No
(1)
Source:
B-Lymphocyte
(763)
LCL
(515)
Whole Blood
(218)
Fibroblast
(181)
Skin, Arm
(55)
Somatic cell hybrid
(41)
Skin, Unspecified
(36)
Skin, Foreskin
(34)
Skin, Skin
(29)
Blood
(23)
Lung, Lung
(11)
Amniotic fluid
(6)
Stem cell
(6)
Skin, Abdomen
(4)
Skin, Thigh
(4)
Aorta, thoracic
(3)
Fetal, Unspecified
(3)
Skin, Buttock
(3)
Skin, Leg
(3)
Artery, iliac
(2)
Bladder carcinoma
(2)
Conjunctiva, Conjunctiva
(2)
Skin, Buttock-thigh
(2)
Skin, Ear
(2)
Skin, Posterior iliac crest
(2)
Adenocarcinoma
(1)
Amniotic fluid-derived cell line
(1)
Aorta, abdominal
(1)
Artery, pulmonary
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Endothelial
(1)
Gonad, Testes
(1)
Neuroepithelioma
(1)
Placental, Placenta
(1)
Skin, Fetal
(1)
Skin, Hip
(1)
Skin, Inguinal area
(1)
Skin, Omentum
(1)
Skin, Sacral area
(1)
Skin, Sacrum
(1)
Skin, Shoulder
(1)
Skin, Thorax
(1)
T-Lymphocyte
(1)
Tendon, Achilles tendon
(1)
Umbilical Cord, Vein, umbilical
(1)
Vein, iliac
(1)
Whole embryo, Embryo
(1)
Sex:
Female
(1039)
Male
(1007)
Other
(4)
Race:
White
(1331)
Black/African American
(167)
More than one race
(31)
Hispanic/Latino
(30)
Asian
(26)
Chinese
(21)
Other
(15)
Unknown
(10)
Asiatic Indian
(5)
American Indian/Alaska Native
(4)
East Indian
(4)
Not Reported
(2)
Asian, Other
(1)
Native Hawaiian/Other Pacific Islander
(1)
Vietnamese
(1)
dbGap Data Available:
No
(2099)
Yes
(62)
Extended Clinical Data Available:
No
(1811)
Yes
(350)
Age at Sampling (Years):
15-24
(707)
0-4
(243)
35-44
(163)
45-54
(147)
5-14
(142)
25-34
(141)
55-64
(110)
65-74
(42)
75-89
(19)
90-99
(3)
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