publication . Article . Other literature type . 2016

Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis

Jan Krayyem; Wajdi Amayreh; Saied A. Jaradat; Kefah Al-Qa'qa';
Open Access
  • Published: 01 Feb 2016 Journal: Meta Gene, volume 7, pages 90-94 (issn: 2214-5400, Copyright policy)
  • Publisher: Elsevier BV
Highlights • LPIN1 mutations were cataloged in families with hereditary myoglobinuria. • A novel missense Gly799Arg mutation was identified. • Arg725His, the only other known missense mutation, was confirmed to be pathogenic. • Arg388X, a known nonsense mutation, was the most common among Arabic patients. • Patients exercise-intolerant between myoglobinuria episodes have a second mutation.
free text keywords: Article, Lipin-1, C-LIP domain, Rhabdomyolysis, medicine.disease, medicine, Polymorphism (computer science), Myoglobinuria, Genetics, Dominance (genetics), Phosphatidate phosphatase, Gene, Missense mutation, Exon, Biology
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