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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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Detaylı Bibliyografya
Yayımlandı:Meta Gene
Asıl Yazarlar: Jaradat, Saied A., Amayreh, Wajdi, Al-Qa'qa', Kefah, Krayyem, Jan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2015
Konular:
Online Erişim: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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