Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B 12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel mutations were identified, as well as 23 mutations that
Mutational spectrum of theAPCandMUTYHgenes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients
✍ Scribed by Giovana Tardin Torrezan…
- Book ID
- 120697115
- Publisher
- BioMed Central
- Year
- 2013
- Tongue
- English
- Weight
- 493 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1750-1172
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