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pro vyhledávání: '"Volodia Stozinic"'
Autor:
François Petit, Naima Khrouf, Liliane Capel, Vincent Gajdos, Stéphane Bézieau, Jeanne Francoual, Alix Mollet-Boudjemline, Abraham Koshy, Frédéric Parisot, Ridha M’Rad, Volodia Stozinic, P. Labrune, Catherine Scoul
Publikováno v:
European journal of human genetics : EJHG. 16(7)
Crigler–Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation – c.1070A>G in exon 3 – was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5401bf1a30941e753e778ab906cd0c5
https://pubmed.ncbi.nlm.nih.gov/18197191
https://pubmed.ncbi.nlm.nih.gov/18197191
