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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency

Pathogenic variants in the argininosuccinate lyase (ASL) gene have been shown to cause argininosuccinate lyase deficiency (ASLD); therefore, sequencing analysis offers advantages for prenatal testing and counseling in families afflicted with this condition. Here, we performed a genetic analysis of a...

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Detalles Bibliográficos
Autores principales:	Zhao, Mei, Hou, Lingling, Teng, Huajing, Li, Jinchen, Wang, Jiesi, Zhang, Kunlin, Yang, Lin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515145/ https://www.ncbi.nlm.nih.gov/pubmed/31183366 http://dx.doi.org/10.1155/2019/3530198

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