Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation

Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation. Nevertheless, the associations between missense mutations and abnormal spl...

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Principais autores:	Kai Yan, Yixi Sun, Yanmei Yang, Bei Liu, Minyue Dong
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2022-05-01
Serija:	Frontiers in Genetics
Teme:	Bardet–Biedl syndrome type I BBS1 alternative splicing whole-exome sequencing (WES) premature termination codon (PTC) nonsense-mediated decay (NMD)
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2022.849562/full
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