X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2

BACKGROUND: X-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of ALAS2 gene. M...

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Detalles Bibliográficos
Autores principales: Wang, Tao, Wang, Yongwei, Dong, Qi, Xu, Chenchen, Zhou, Xiping, Ouyang, Yunshu, Liu, Yaping, Lee, Jonathan J., Hu, Nina, Wang, Kevin, Zdravkovic, Tanja Prunk, Shen, Jun, Nie, Guangjun, Lian, Christine G., Liu, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186625/
https://www.ncbi.nlm.nih.gov/pubmed/32355788
http://dx.doi.org/10.21037/atm.2020.02.80

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186625/
https://www.ncbi.nlm.nih.gov/pubmed/32355788
http://dx.doi.org/10.21037/atm.2020.02.80

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