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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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| Yayımlandı: | Meta Gene |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2015
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| 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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