Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis

Recessive mutations in LPIN1, which encodes a phosphatidate phosphatase enzyme, are a frequent cause of severe rhabdomyolysis in childhood. Hence, we sequenced the 19 coding exons of the gene in eight patients with recurrent hereditary myoglobinuria from four unrelated families in Jordan. The long-t...

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Detalles Bibliográficos
Autores principales: Jaradat, Saied A., Amayreh, Wajdi, Al-Qa'qa', Kefah, Krayyem, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733219/
https://www.ncbi.nlm.nih.gov/pubmed/26909335
http://dx.doi.org/10.1016/j.mgene.2015.12.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733219/
https://www.ncbi.nlm.nih.gov/pubmed/26909335
http://dx.doi.org/10.1016/j.mgene.2015.12.003

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