Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency

Objective: We investigated a strategy of exome sequencing DNA from the unaffected parents and applied a set of filtering criteria to identify genes where both partners are heterozygous for a potentially pathogenic variant. Case report: We report a non-consanguineous couple who had three daughters, a...

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Detalhes bibliográficos

Principais autores:	Van Khanh Tran, Quang Minh Diep, Zilong Qiu, Thi Phuong Le, Long Duy Do, Hai Anh Tran, The-Hung Bui, Thanh Van Ta, Thinh Huy Tran
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2022-01-01
coleção:	Taiwanese Journal of Obstetrics & Gynecology
Assuntos:	Carnitine-acylcarnitine translocase deficiency Fatty acid β-oxidation Mutation analysis SLA25A20 Whole exome sequencing Endocrinology and metabolic disorders
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1028455921003314
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