Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain

Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain

Background: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases from Arab countries. The affected patients typically...

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Bibliographic Details
Main Authors: Emtithal Aljishi, Zahra Alsahlawi, Mohammed Taha, Abdulla Alshaiji, Zakiya Almosawi, Osama Abelkarim, Hasan Isa, Khulood Alsaad, Ali Ebrahim
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2020-06-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
lysinuric protein intolerance
hemophagocytic lymphohistiocytosis
pulmonary alveolar proteinosis
osteoporosis
hemorrhagic gastritis
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=85358

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