Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria

Chinese Journal of Medical Genetics

Volumn 26, Issue 1, 2009, Pages 62-65

  Tang, Hui ^a   Hao, Hu ^b   Tang, Shao Hui ^a   Chen, Xuan ^a   Liu, Fang ^a   Cha, Qing Bing ^a   Li, Yue Qin ^a   Li, Hong Jian ^a   Sun, Liang ^a   Yu, Ming ^a   Xiao, Xin ^b   Zhou, Tian Hong ^a  

^a JINAN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

Author keywords

Gene mutation; Methylmalonic aciduria; MMACHC gene

Indexed keywords

COBALAMIN; DNA;

ARTICLE; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FATHER; GENE; GENE MUTATION; GENE SEQUENCE; HOMOCYSTINURIA; HUMAN; MALE; METHYLMALONIC ACIDURIA; MMACHC GENE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; VITAMIN DEFICIENCY;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FATHERS; FEMALE; HUMANS; MALE; METHYLMALONIC ACID; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PROTEIN STRUCTURE, SECONDARY;

EID: 60549101696     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.014     Document Type: Article

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