Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1452-1459

  Chung, Brian Hon Yin ^a   Lam, Stephen Tak Sum ^b   Tong, Tony Ming For ^b   Li, Susanna Yuk Han ^a   Lun, Kin Shing ^a   Chan, Daniel Hon Chuen ^b   Fok, Susanna Fung Shan ^a   Or, June Siu Fong ^b   Smith, David Keith ^c   Yang, Wanling ^a   Lau, Yu Lung ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b DEPARTMENT OF HEALTH   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

FBN1; Marfan syndrome; Mutation screening; TGFBR2

Indexed keywords

FIBRILLIN 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SPLICING DEFECT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 67649882928     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32918     Document Type: Article

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