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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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Detalhes bibliográficos
Publicado no:Meta Gene
Main Authors: Jaradat, Saied A., Amayreh, Wajdi, Al-Qa'qa', Kefah, Krayyem, Jan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4733219/
https://ncbi.nlm.nih.gov/pubmed/26909335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.12.003
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