Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using conventional Sanger sequencing. Herein we descri...

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Detalles Bibliográficos
Autores principales: Tsai, Meng-Che, Yu, Hui-Wen, Liu, Tsunglin, Chou, Yen-Yin, Chiou, Yuan-Yow, Chen, Peng-Chieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915457/
https://www.ncbi.nlm.nih.gov/pubmed/29720996
http://dx.doi.org/10.3389/fgene.2018.00110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915457/
https://www.ncbi.nlm.nih.gov/pubmed/29720996
http://dx.doi.org/10.3389/fgene.2018.00110

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