Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome

Pediatrics International

Volumn 42, Issue 5, 2000, Pages 488-491

  Oh, Myung Ryurl ^a   Kim, Jung Sim ^a   Beck, Nam Seon ^a,b   Yoo, Han Wook ^c   Lee, Heung Jae ^a,b   Kohsaka, Takao ^d   Jin, Dong Kyu ^a,b  

^a Samsung Medical Center   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Fibrillin; Genotype; Marfan syndrome; Mutation

Indexed keywords

FIBRILLIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; KOREA; MALE; MARFAN SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FRAMESHIFT MUTATION; HUMANS; KOREA; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0033791234     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2000.01268.x     Document Type: Article

References (18)

1. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
2. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
3. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
4. Prenatal and presymptomatic diagnosis of the Marfan syndrome using fluorescence PCR and an automated sequencer
5. The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1
6. 2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions
7. EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1
8. International nosology of heritable disorders of connective tissue
9. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
10. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
11. Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
12. Marfan phenotype variability in a family segregating missense mutation in the epidermal growth factor-like motif of the fibrillin gene
13. The pathogenicity of the Prol148Ala substitution in the FBN1 gene: Causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
14. NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1
15. Mutations of FBN1 gene found in Japanese patients with Marfan syndrome
16. A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
17. Marfan syndrome: Defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts
18. Fibrillin-1: Organization in microfibrils and structural properties