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

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 novel he...

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Detalles Bibliográficos
Autores principales: Wang, Tian, Tang, Zhuangli, Xiao, Tong, Ren, Junru, He, Shuyao, Liu, Yan, Xiao, Shengxiang, Wang, Xiaopeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314434/
https://www.ncbi.nlm.nih.gov/pubmed/37393290
http://dx.doi.org/10.1186/s12920-023-01580-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314434/
https://www.ncbi.nlm.nih.gov/pubmed/37393290
http://dx.doi.org/10.1186/s12920-023-01580-1

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