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Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Alessandri, Jean-Luc, Gordon, Christopher T., Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert F, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, GérardLangue:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-017-0087-x
Date:
January, 2018
Fichier:
PDF, 2.02 MB
english, 2018