Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

BACKGROUND: Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11 (cblX‐like), and ZNF143 (cblX‐like), or a he...

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Detalles Bibliográficos
Autores principales: Hwang, Narae, Jang, Ja‐Hyun, Cho, Eun‐Hae, Choi, Rihwa, Choi, Suk‐Joo, Park, Hyung‐Doo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606215/
https://www.ncbi.nlm.nih.gov/pubmed/34655177
http://dx.doi.org/10.1002/mgg3.1838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606215/
https://www.ncbi.nlm.nih.gov/pubmed/34655177
http://dx.doi.org/10.1002/mgg3.1838

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