A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure

We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplif...

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Detalles Bibliográficos
Autores principales: Al Sarkhy, Ahmed, Al-Sunaid, Areej, Abdullah, Ahmad, AlFadhel, Majid, Eiyad, Wafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074855/
https://www.ncbi.nlm.nih.gov/pubmed/24894789
http://dx.doi.org/10.5144/0256-4947.2014.175

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074855/
https://www.ncbi.nlm.nih.gov/pubmed/24894789
http://dx.doi.org/10.5144/0256-4947.2014.175

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