Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations

Human Mutation

Volumn 25, Issue 3, 2005, Pages

  Kuehl, Heidi K A ^a   Caselitz, Martin ^a,b   Hasenkamp, Sandra ^a   Wagner, Siegfried ^a,b   El Harith, El Harith A ^a   Manns, Michael P ^a   Stuhrmann, Manfred ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b Klinikum Deggendorf   (Germany)

Author keywords

Acvrl1; Alk1; Eng; Hht; Osler Rendu Weber syndrome

Indexed keywords

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

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CODON; FEMALE; GENE DELETION; GENETICS; HUMAN; LIVER; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POINT MUTATION; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS, TYPE II; ADULT; AGED; AMINO ACID SUBSTITUTION; ANTIGENS, CD; CODON; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LIVER; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 25144512057     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9311     Document Type: Article

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