Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be resp...

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Detalles Bibliográficos
Autores principales: Li, Liangshan, Liu, Wenmiao, Xu, Yinglei, Li, Miaomiao, Tang, Qian, Yu, Bo, Cai, Renmei, Liu, Shiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005637/
https://www.ncbi.nlm.nih.gov/pubmed/31833240
http://dx.doi.org/10.1002/mgg3.1076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005637/
https://www.ncbi.nlm.nih.gov/pubmed/31833240
http://dx.doi.org/10.1002/mgg3.1076

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