Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2009-2016

  Wilson, A ^a,c   Leclerc, D ^a   Rosenblatt, D S ^b,c   Gravel, R A ^a,c  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b ROYAL VICTORIA HOSPITAL   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; COMPLEMENTARY DNA; FLAVINE ADENINE NUCLEOTIDE; FLAVINE MONONUCLEOTIDE; FOLIC ACID; METHIONINE SYNTHASE; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; FOLATE METABOLISM; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HYPERHOMOCYSTEINEMIA; INBORN ERROR OF METABOLISM; MEGALOBLASTIC ANEMIA; MOLECULAR CLONING; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ANEMIA, MEGALOBLASTIC; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ENZYME ACTIVATION; FERREDOXIN-NADP REDUCTASE; FOLIC ACID; GENES, RECESSIVE; GENETIC COMPLEMENTATION TEST; HETERODUPLEX ANALYSIS; HOMOCYSTEINE; HUMANS; HYPERHOMOCYSTEINEMIA; METHIONINE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; VITAMIN B 12;

EID: 0032862179     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2009     Document Type: Article

References (18)

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