(PDF) Identification of a Novel Missense FBN2 Mutation in a

Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

PLoS ONE - United States

doi 10.1371/journal.pone.0155908

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May 19, 2016

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Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

PLoS ONE - United States

doi 10.1371/journal.pone.0155908

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

A Novel FBN2 Mutation Cosegregates With Congenital Contractural Arachnodactyly in a Five-Generation Chinese Family

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated With Congenital Cataract in a Chinese Family

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated With Congenital Contractural Arachnodactyly (CCA), Also Known as Beal's Syndrome

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome