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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

PURPOSE: Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype which confers susceptibility to skin disorders. METHODS: We assessed the effects and function of MC1R variants identified in our clinical cohort of 135,947 participants with available exome sequencing using ph...

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Detalles Bibliográficos
Autores principales: Moore, Bryn S., Luo, Jonathan Z., Stepanchick, Ann N., Mirshahi, Tooraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633122/
https://www.ncbi.nlm.nih.gov/pubmed/34326492
http://dx.doi.org/10.1038/s41436-021-01284-w