Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene

Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the mutation spectrum of a cohort of Iranian Niemann-Pick patients. Methods: A consanguineous couple with a child suspected of havi...

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Detalles Bibliográficos
Autores principales: Zahedi Abghari, Fateme, Bayat, Fatemeh, Razipour, Masoumeh, Karimipoor, Morteza, Taghavi-Basmenj, Maryam, Zeinali, Sirous, Davoudi-Dehaghani, Elham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iran University of Medical Sciences 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137857/
https://www.ncbi.nlm.nih.gov/pubmed/32280632
http://dx.doi.org/10.34171/mjiri.33.126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137857/
https://www.ncbi.nlm.nih.gov/pubmed/32280632
http://dx.doi.org/10.34171/mjiri.33.126

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