Výsledky vyhledávání - "Olivia Wellauer"

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Autor: Carmen Diez-Fernandez, Corinne Gemperle, Véronique Rüfenacht, Olivia Wellauer, Ralph Fingerhut, Johannes Häberle

Publikováno v: Journal of medical genetics

Background Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations. Of the ∼90 argininosuccinate synthetase (ASS) missense mutations rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66212143bba52802b21cc75ff67a19df
https://doi.org/10.1136/jmedgenet-2016-103937

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