Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia

Journal of Korean Medical Science

Volumn 24, Issue 1, 2009, Pages 69-76

  Lee, Seung Tae ^a   Kim, Jee Ah ^b   Jang, Shin Yi ^a   Kim, Duk Kyung ^a   Do, Young Soo ^c   Suh, Gee Young ^a   Kim, Jong Won ^a   Ki, Chang Seok ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Garak High School   (South Korea)

^c Samsung Medical Center   (South Korea)

Author keywords

ACVRL1; ENG; Hereditary hemorrhagic; Korean; Mutation; SMAD4; Telangiectasia

Indexed keywords

ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; SMAD4 PROTEIN; SMAD4 PROTEIN, HUMAN;

ADULT; ALLELE; ANGIOGRAPHY; ARTICLE; ASIAN; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; KOREA; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS, TYPE II; ADULT; ALLELES; ANGIOGRAPHY; ANTIGENS, CD; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; SMAD4 PROTEIN; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 65649105731     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2009.24.1.69     Document Type: Article

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