A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome

Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin disorder, which results in symptoms including blistering, epidermal atrophy, increased risk of cancer, and poor wound healing. The majority of mutations of the disease-determining gene (FERMT1 gene) are single nucleotide substitut...

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Bibliografiske detaljer
Udgivet i:J Zhejiang Univ Sci B
Main Authors: GAO, Ying, BAI, Jin-li, LIU, Xiao-yan, QU, Yu-jin, CAO, Yan-yan, WANG, Jian-cai, JIN, Yu-wei, WANG, Hong, SONG, Fang
Format: Artigo
Sprog:Inglês
Udgivet: Zhejiang University Press 2015
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4642877/
https://ncbi.nlm.nih.gov/pubmed/26537214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1500080
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