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

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

Abstract 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-s...

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Bibliographic Details
Main Authors: Mitsuko Furuya, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka, Yukio Nakatani
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genomics
Subjects:
Birt-Hogg-Dubé syndrome (BHD)
Splice-site mutation
Folliculin (FLCN)
Online Access:http://link.springer.com/article/10.1186/s12920-018-0359-5

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http://link.springer.com/article/10.1186/s12920-018-0359-5

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