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Search Results for - METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY

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1 - 50 of 2018 Results
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Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
Fibroblast
 
 
 
 
 
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
DNA
 
Fibroblast
 
 
 
 
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
LCL
 
B-Lymphocyte
 
 
 
 
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
LCL
 
B-Lymphocyte
 
 
 
 
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
LCL
 
B-Lymphocyte
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
DNA
 
LCL
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
 
DNA
 
LCL
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS
 
DNA
 
LCL
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | FACTOR V DEFICIENCY
 
DNA
 
LCL
 
 
 
 
HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
DNA
 
LCL
 
 
 
 
HEMOPHILIA B; HEMB | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
LCL
 
B-Lymphocyte
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | FACTOR V DEFICIENCY
 
LCL
 
B-Lymphocyte
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
DNA
 
LCL
 
 
 
 
COAGULATION FACTOR II; F2 | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | FACTOR V DEFICIENCY | HEMOCHROMATOSIS; HFE | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
 
DNA
 
LCL
 
 
 
 
APPARENTLY HEALTHY INDIVIDUAL | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
 
DNA
 
LCL
 
 
 
 
DYSTROPHIA MYOTONICA 1; DM1 | DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
High Molecular Weight DNA
 
B-Lymphocyte
 
 
 
 
COAGULATION FACTOR II; F2 | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | FACTOR V DEFICIENCY | HEMOCHROMATOSIS; HFE | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
 
LCL
 
B-Lymphocyte
 
 
 
 
COAGULATION FACTOR II; F2 | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HOMEOSTATIC IRON REGULATOR; HFE
 
DNA
 
LCL
 
 
 
 
APPARENTLY HEALTHY INDIVIDUAL | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
 
LCL
 
B-Lymphocyte
 
 
 
 
CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
 
DNA
 
LCL
 
 
 
 
DYSTROPHIA MYOTONICA 1; DM1 | DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
LCL
 
B-Lymphocyte
 
 
 
 
DYSTROPHIA MYOTONICA 1; DM1 | DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
DNA
 
LCL
 
 
 
 
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
LCL
 
B-Lymphocyte
 
 
 
 
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
 
Fibroblast
 
Skin, Labialscrotal fold
 
 
 
 
DYSTROPHIA MYOTONICA 1; DM1
 
DNA
 
Fibroblast
 
 
 
 
CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2) | HOMEOSTATIC IRON REGULATOR; HFE
 
DNA
 
LCL
 
 
 
 
CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2) | HOMEOSTATIC IRON REGULATOR; HFE
 
High Molecular Weight DNA
 
B-Lymphocyte
 
 
 
 
CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
 
LCL
 
B-Lymphocyte
 
 
 
 
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
 
Fibroblast
 
 
 
 
 
PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
 
DNA
 
Fibroblast
 
 
 
 
CYSTIC FIBROSIS; CF | CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2) | HOMEOSTATIC IRON REGULATOR; HFE
 
LCL
 
B-Lymphocyte
 
 
 
 
COAGULATION FACTOR II; F2 | HEMOCHROMATOSIS; HFE | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS | HOMEOSTATIC IRON REGULATOR; HFE
 
LCL
 
B-Lymphocyte
 
 
 
 
HYPERLYSINEMIA
 
Fibroblast
 
 
 
 
 
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 | NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3 | HYPERHOMOCYSTEINEMIA | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
LCL
 
B-Lymphocyte
 
 
 
 
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 | NOTCH, DROSOPHILA, HOMOLOG OF, 3; NOTCH3 | HYPERHOMOCYSTEINEMIA | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
PHENYLKETONURIA
 
DNA
 
Fibroblast
 
 
 
 
DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
 
DNA
 
LCL
 
 
 
 
DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
 
LCL
 
B-Lymphocyte
 
 
 
 
PHENYLKETONURIA
 
Fibroblast
 
 
 
 
 
CRICETULUS
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
 
DNA
 
LCL
 
 
 
 
SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
 
Fibroblast
 
 
 
 
 
SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
 
DNA
 
Fibroblast
 
 
 
 
SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
 
Fibroblast
 
 
 
 
 
SMITH-LEMLI-OPITZ SYNDROME; SLOS | 7-@DEHYDROCHOLESTEROL REDUCTASE; DHCR7
 
LCL
 
B-Lymphocyte

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