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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
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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 |