Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report

BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site muta...

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Detalles Bibliográficos
Autores principales: Furuya, Mitsuko, Kobayashi, Hironori, Baba, Masaya, Ito, Takaaki, Tanaka, Reiko, Nakatani, Yukio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930857/
https://www.ncbi.nlm.nih.gov/pubmed/29720200
http://dx.doi.org/10.1186/s12920-018-0359-5

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