Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda

Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda

Abstract Background Mal de Meleda is an autosomal recessive palmoplantar keratoderma, with SLURP1 identified as the pathogenic gene responsible. Although over 20 mutations in SLURP1 have been reported, only the mutation c.256G > A (p.G87R) has been detected in Chinese patients. Here, we report a...

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Bibliographic Details
Main Authors: Tian Wang, Zhuangli Tang, Tong Xiao, Junru Ren, Shuyao He, Yan Liu, Shengxiang Xiao, Xiaopeng Wang
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Medical Genomics
Subjects:
Mal de Meleda
SLURP1
Mutation analysis
Online Access:https://doi.org/10.1186/s12920-023-01580-1

Internet

https://doi.org/10.1186/s12920-023-01580-1

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