Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type
OBJECTIVE: CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia
Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 48(2010), 6 vom: 15. Juni, Seite 469-72 |
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Auteur principal: | |
Autres auteurs: | , , , , , , , , |
Format: | Article |
Langue: | Chinese |
Publié: |
2010
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Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
Sujets: | Case Reports Journal Article Carrier Proteins Methylmalonic Acid 8LL8S712J7 MMACHC protein, human EC 1.- Oxidoreductases Vitamin B 12 P6YC3EG204 |