A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly

scientific article

A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1089/GTMB.2008.0132
P8608Fatcat IDrelease_jjt24b53b5c3tfdcghqxgtv47m
P698PubMed publication ID19473076
P5875ResearchGate publication ID26244456

P50authorJin LiQ6201879
P2093author name stringWei Wang
Ying Chen
Jing Zhang
Hong Li
Hong-Yan Wang
Hong-Bo Cheng
Hong-Xiang Zheng
Yun-Ping Lei
P2860cites workMEGA4: Molecular Evolutionary Genetics Analysis (MEGA) Software Version 4.0Q26778434
P433issue3
P921main subjectCongenital contractural arachnodactylyQ3508618
P304page(s)295-300
P577publication date2009-06-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleA novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly
P478volume13

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cites work (P2860)
Q35178445A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly
Q57636421Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
Q36022693Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing
Q34295839Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases.

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