Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Journal of Human Genetics

Volumn 55, Issue 9, 2010, Pages 621-626

  Liu, Mei Ying ^a   Yang, Yan Ling ^b   Chang, Ying Chen ^a   Chiang, Szu Hui ^c   Lin, Shuan Pei ^d   Han, Lian Shu ^e   Qi, Yu ^b   Hsiao, Kwang Jen ^c,f   Liu, Tze Tze ^a,f  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b PEKING UNIVERSITY   (China)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d MACKAY MEMORIAL HOSPITAL   (Taiwan)

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

^f TAIPEI CITY HOSPITAL   (Taiwan)

Author keywords

cblC; Chinese; founder; methylmalonic aciduria and homocystinuria; MMACHC

Indexed keywords

CYANOCOBALAMIN;

ARTICLE; CHINESE; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; MALE; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; CHILD, PRESCHOOL; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HOMOCYSTINURIA; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE;

EID: 77957304094     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.81     Document Type: Article

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