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Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cobalamin(cbl)C deficiency, is a rare disorder of intracellular vitamin B(12)(cbl) metabolism caused by mutations in the MMACHC gene. Both genetic and biochemical approach have been established to diagnose children and fetuses with cblC...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4557897/ https://ncbi.nlm.nih.gov/pubmed/26149271 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0196-8 |
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