Novel mutations in one allele in a Chinese family with neurofibromatosis type 1: Including a complex insertion–deletion mutation

Neurofibromatosis type 1 (NF1) is a hereditary disease with variable clinical manifestations. This study was performed in a Chinese three‐generation family containing two members with NF1. Two novel mutations, c.853_854insTC and c.1975_1976delinsTA, were identified in the same allele in both patient...

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Detalles Bibliográficos
Autores principales: Zhu, Lude, Shi, Lei, Wang, Bo, Bi, Mingye, Pu, Jie, Zhang, Linglin, Zhang, Yunfeng, Wang, Xiuli, Zhang, Guolong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Concise Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108421/
https://www.ncbi.nlm.nih.gov/pubmed/27374410
http://dx.doi.org/10.1111/1346-8138.13498

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5108421/
https://www.ncbi.nlm.nih.gov/pubmed/27374410
http://dx.doi.org/10.1111/1346-8138.13498

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