Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation

Journal of the Formosan Medical Association

Volumn 100, Issue 12, 2001, Pages 817-819

  Lin, Wei De ^a   Wu, Jer Yuarn ^a   Hsu, Hsiu Bao ^a   Tsai, Fuu Jen ^a   Lee, Cheng Chung ^a   Tsai, Chang Hai ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Hereditary hemorrhagic telangiectasia; Linkage analysis; Mutation identification

Indexed keywords

ACTIVIN RECEPTOR; ARGININE; DNA; ENDOGLIN; GLUTAMINE; PHOSPHOTRANSFERASE;

ADULT; AMINO ACID SUBSTITUTION; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 9Q; CHROMOSOME MAP; CODON; DISEASE ASSOCIATION; DNA SEQUENCE; DYSPLASIA; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC MARKER; HUMAN; LINKAGE ANALYSIS; LIVER; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; RENDU OSLER WEBER DISEASE; TANDEM REPEAT;

ACTIVIN RECEPTORS, TYPE I; ACTIVIN RECEPTORS, TYPE II; AGED; AMINO ACID SUBSTITUTION; ANTIGENS, CD; ARTERIOVENOUS MALFORMATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 9; HEPATIC ARTERY; HEPATIC VEINS; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 0035695977     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community
2. Hereditary hemorrhagic telangiectasia
3. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia
4. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34
5. Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells
6. Endoglin is a component of the transforming growth factor-beta receptor system in human endothelial cells
7. Six novel mutations in the endoglin gene in hereditary haemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
8. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q
9. Mutation in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
10. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors
11. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2
12. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2
13. The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary haemorrhagic telangiectasia type 2
14. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia