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

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

Abstract 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),...

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Bibliographic Details
Main Authors: Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
combined methylmalonic acidemia with homocystinuria
prenatal diagnosis
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1838

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