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Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma

This study sought to analyse tyrosinase (TYR) pathogenic variants in a Chinese Mongolian family with progressive symmetric erythrokeratoderma (PSEK). We collected clinical data and peripheral blood DNA samples from the initial patient and his family members for polymerase chain reaction (PCR) amplif...

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Detalles Bibliográficos
Autores principales: Duan, Yan, Li, Linye, He, Yue, Wang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8653735/
https://www.ncbi.nlm.nih.gov/pubmed/34934729
http://dx.doi.org/10.4103/idoj.IDOJ_665_20