Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference13 articles.
1. Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature;Carpentieri;Mol. Genet. Metab. Rep.,2015
2. The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence;Ko;J. Korean Med. Sci.,2012
3. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene;Sperandeo;Hum. Mutat.,2008
4. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7;Puomila;Mol. Genet. Metab.,2007
5. Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1);Mykkänen;Biochem. Biophys. Res. Commun.,2003
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