A rare homozygous missense mutation of COL7A1 in a Vietnamese family

We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form of this mutation in combination with a premature termin...

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Detalles Bibliográficos
Autores principales: Duong, Nguyen Thuy, Anh, Luong Thi Lan, Sau, Nguyen Huu, Anh, Nguyen Bao, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113988/
https://www.ncbi.nlm.nih.gov/pubmed/35581191
http://dx.doi.org/10.1038/s41439-022-00192-y

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