Analysis of the MUT gene mutations in patients with methylmalonic acidemia

Chinese Journal of Medical Genetics

Volumn 26, Issue 5, 2009, Pages 485-489

  Wang, Fei ^a   Han, Lian Shu ^a   Ye, Jun ^a   Qiu, Wen Juan ^a   Zhang, Ya Fen ^a   Gao, Xiao Lan ^a   Wang, Yu ^a   Yang, Yan Ling ^b   Gu, Xue Fan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b PEKING UNIVERSITY   (China)

Author keywords

Methylmalonic acid; Methylmalonyl CoA mutase; MUT gene; Mutation

Indexed keywords

ACETYLCARNITINE; ACYLCARNITINE; CARNITINE; CYANOCOBALAMIN; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; METHYLMALONIC ACIDEMIA; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CHINA; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 70350710136     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.05.001     Document Type: Article

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