FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax

    American journal of medical genetics. Part A, Volume 167A, Issue 5, 2015, Pages 1125-1133.

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    Keywords:
    bhd syndromeflcn genedeletion/duplication mutationfamiliar primary spontaneous pneumothorax

    Abstract:

    Primary spontaneous pneumothorax (PSP) is a significant clinical problem, affecting tens of thousands patients annually. Germline mutations in the FLCN gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified FLCN mutations are small indels or point mutations that detected by Sanger sequencing. The ai...More

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