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