Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families

Molecular Vision

Volumn 19, Issue , 2013, Pages 751-758

  Zhao, Feng ^a   Pan, Xinyuan ^b   Zhao, Kanxing ^a   Zhao, Chen ^b  

^a TIANJIN MEDICAL UNIVERSITY   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; FIBRILLIN 1 GENE; GENE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LINKAGE ANALYSIS; MALE; MARFAN SYNDROME; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SCORING SYSTEM; SEQUENCE ANALYSIS; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2 GENE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84876195642     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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