A Novel Mutation (C1425Y) in the FBN2 Gene in a Father and Son with Congenital Contractural Arachnodactyly-Reference-Cited by-同舟云学术

A Novel Mutation (C1425Y) in the FBN2 Gene in a Father and Son with Congenital Contractural Arachnodactyly

Published:2009-06 Issue:3 Volume:13 Page:295-300
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Chen Ying¹,Lei Yun-Ping²,Zheng Hong-Xiang²,Wang Wei¹,Cheng Hong-Bo¹,Zhang Jing¹,Wang Hong-Yan²,Jin Li²,Li Hong¹

Affiliation:

1. Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, P.R. China.

2. State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0132

Reference37 articles.

1. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

2. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

3. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

4. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

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1. Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome;European Journal of Medical Genetics;2020-10

2. Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing;PLOS ONE;2016-05-19

3. A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly;FEBS Open Bio;2015-01

4. Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis;Ultrasound in Obstetrics & Gynecology;2014-09-08

5. Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases;Molecular Genetics and Metabolism;2012-12