First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

Lysinuric protein intolerance (LPI, MIM# 222700) is an inherited aminoaciduria caused by defective transport of cationic amino acids (CAAs; arginine, lysine, ornithine) at the basolateral membrane of epithelial cells in the intestine and kidney. We report the first prenatal diagnosis by direct mutat...

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Detalhes bibliográficos
Main Authors: Esseghir, Nadia, Bouchlaka, Chiraz Souissi, Fredj, Sondess Hadj, Chehida, Amel Ben, Azzouz, Hatem, Fontaine, Monique, Tebib, Neji, Dridi, Marie Françoise Ben, Briand, Gilbert, Messaoud, Taieb, Elgaaied, Amel Ben Ammar, Kaabachi, Naziha
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509814/
https://ncbi.nlm.nih.gov/pubmed/23430825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_13
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