Homozygous and compound heterozygous mutations in the...

Journal of Medical Genetics 2017 / 02 Vol. 54; Iss. 2

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

Arnaud, Pauline, Hanna, Nadine, Aubart, Mélodie, Leheup, Bruno, Dupuis-Girod, Sophie, Naudion, Sophie, Lacombe, Didier, Milleron, Olivier, Odent, Sylvie, Faivre, Laurence, Bal, Laurence, Edouard, Thom
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Volume:
54
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2016-103996
Date:
February, 2017
File:
PDF, 744 KB
english, 2017
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