Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): Correlation of genotype with phenotype

Human Mutation

Volumn 27, Issue 7, 2006, Pages 667-675

  Bossler, Aaron D ^a   Richards, Jennifer ^a   George, Cicily ^a   Godmilow, Lynn ^a   Ganguly, Arupa ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

ACVRL1; ENG; Hereditary hemorrhagic telangiectasia; HHT; Osler Weber Rendu

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ACVRL1 GENE; ADULT; ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEEDING; EARLY DIAGNOSIS; ENG GENE; EPISTAXIS; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LUNG ARTERIOVENOUS SHUNT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS; SYMPTOM;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTIGENS, CD; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 33745700371     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20342     Document Type: Article

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