Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations

Molecular Genetics and Metabolism

Volumn 88, Issue 4, 2006, Pages 315-321

  Morel, Chantal F ^a   Lerner Ellis, Jordan P ^a   Rosenblatt, David S ^a  

^a Division of Medical Genetics   (Canada)

Author keywords

cblC; Cobalamin; Genotype; Homocystinuria; Methylmalonic aciduria; MMACHC; Phenotype; Vitamin B12

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; MALE; METHYLMALONIC ACIDURIA; MUTATIONAL ANALYSIS; ONSET AGE; PRIORITY JOURNAL;

ADOLESCENT; AGE OF ONSET; CARRIER PROTEINS; CHILD; ETHNIC GROUPS; FEMALE; FIBROBLASTS; HETEROZYGOTE; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; VITAMIN B 12;

EID: 33746280280     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.04.001     Document Type: Article

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