Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype

Chinese Medical Journal

Volumn 123, Issue 20, 2010, Pages 2874-2878

  Gao, Ling Gen ^a   Zhang, Lin ^a   Song, Lei ^a   Wang, Hu ^a   Chang, Qian ^a   Wu, Yong Bo ^a   Hui, Ru Tai ^a   Zhou, Xian Liang ^a  

^a FUWAI HOSPITAL   (China)

Author keywords

C terminal modules; Fbn1 mutation; Genotype phenotype correlations; Marfan syndrome

Indexed keywords

ACTIN BINDING PROTEIN; FIBRILLIN;

ADULT; ARTICLE; FEMALE; GENETICS; GENOTYPE; HUMAN; MALE; MARFAN SYNDROME; MIDDLE AGED; MUTATION; PHENOTYPE;

ADULT; FEMALE; GENOTYPE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 79952276594     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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