Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud, Pauline
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. [electronic resource] - Journal of medical genetics 02 2017 - 100-103 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2016-103996 doi
Alleles
Codon, Nonsense
Female
Fibrillin-1--genetics
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Homozygote
Humans
Male
Marfan Syndrome--diagnosis
Mutation, Missense--genetics
Pathology, Molecular
Pedigree
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. [electronic resource] - Journal of medical genetics 02 2017 - 100-103 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2016-103996 doi
Alleles
Codon, Nonsense
Female
Fibrillin-1--genetics
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Homozygote
Humans
Male
Marfan Syndrome--diagnosis
Mutation, Missense--genetics
Pathology, Molecular
Pedigree