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

Genetic testing and molecular biomarkers

Volumn 13, Issue 3, 2009, Pages 295-300

  Chen, Ying ^a   Lei, Yun Ping ^a   Zheng, Hong Xiang ^a   Wang, Wei ^a   Cheng, Hong Bo ^a   Zhang, Jing ^a   Wang, Hong Yan ^a   Jin, L ^a   Li, Hong ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

AMINO ACID SEQUENCE; ARACHNODACTYLY; ARTICLE; CHEMICAL STRUCTURE; CONSENSUS SEQUENCE; DOMINANT GENE; FATHER; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; PEDIGREE; PHYLOGENY; PHYSIOLOGY; PRESCHOOL CHILD; SEQUENCE HOMOLOGY; SPERMATOZOON MOTILITY;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ARACHNODACTYLY; CHILD, PRESCHOOL; CONSENSUS SEQUENCE; FATHERS; GENES, DOMINANT; HUMANS; MALE; MICROFILAMENT PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHYLOGENY; SEQUENCE HOMOLOGY, AMINO ACID; SPERM MOTILITY;

EID: 67651024912     PISSN: None     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2008.0132     Document Type: Article

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