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Search Results for - 21-HYDROXYLASE DEFICIENCY

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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
Fibroblast
 
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
High Molecular Weight DNA
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
Fibroblast
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
DNA
 
LCL
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
 
LCL
 
B-Lymphocyte
 
 
 
 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2
 
LCL
 
B-Lymphocyte
 
 
 
 
LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
 
DNA
 
LCL
 
 
 
 
LANGER MESOMELIC DYSPLASIA | SHORT STATURE HOMEOBOX; SHOX
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA | CYSTATHIONINURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
DNA
 
LCL
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
DNA
 
LCL
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
DNA
 
LCL
 
 
 
 
TYROSINE TRANSAMINASE DEFICIENCY
 
Fibroblast
 
 
 
 
 
MUCOPOLYSACCHARIDOSIS TYPE II
 
Amniotic fluid-derived cell line
 
Amniotic fluid
 
 
 
 
MUCOPOLYSACCHARIDOSIS TYPE II
 
Fibroblast
 
 
 
 
 
MUCOPOLYSACCHARIDOSIS TYPE II
 
DNA
 
Amniotic fluid-derived cell line
 
 
 
 
HYPERGLYCEROLEMIA
 
LCL
 
B-Lymphocyte
 
 
 
 
MUCOPOLYSACCHARIDOSIS TYPE II
 
DNA
 
Fibroblast
 
 
 
 
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | ORNITHINE CARBAMOYLTRANSFERASE; OTC
 
DNA
 
LCL
 
 
 
 
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | ORNITHINE CARBAMOYLTRANSFERASE; OTC
 
LCL
 
B-Lymphocyte
 
 
 
 
SJOGREN-LARSSON SYNDROME | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2
 
DNA
 
Fibroblast
 
 
 
 
APPARENTLY HEALTHY INDIVIDUAL
 
LCL
 
B-Lymphocyte
 
 
 
 
MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
 
Fibroblast
 
 
 
 
 
KRABBE DISEASE
 
Fibroblast
 
Spleen, Keloid
 
 
 
 
ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | PROTEASE INHIBITOR 1; PI
 
DNA
 
LCL
 
 
 
 
KRABBE DISEASE
 
Fibroblast
 
Brain, Brain
 
 
 
 
CANAVAN DISEASE | ASPARTOACYLASE; ASPA
 
LCL
 
B-Lymphocyte

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