National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

Clinical Genetics

Volumn 86, Issue 2, 2014, Pages 123-133

  Torring P M ^a   Brusgaard, K ^a   Ousager, L B ^a   Andersen, P E ^a   Kjeldsen, A D ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

ACVRL1; ENG; Genetic testing; Hereditary haemorrhagic telangiectasia; HHT; Mutation; Osler Weber Rendu; SMAD4

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; PROTEIN; PROTEIN ENG; SMAD4 PROTEIN; UNCLASSIFIED DRUG; RNA SPLICING;

ADOLESCENT; ADULT; AGED; ARTICLE; BINDING SITE; CHILD; CODON; EPISTAXIS; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PATHOGENICITY; PRIORITY JOURNAL; PULMONARY ARTERIOVENOUS FISTULA; RENDU OSLER WEBER DISEASE; AMINO ACID SEQUENCE; ARTERIOVENOUS MALFORMATION; CHEMICAL STRUCTURE; COMPLICATION; DENMARK; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PREVALENCE; RNA SPLICING;

AMINO ACID SEQUENCE; ARTERIOVENOUS MALFORMATIONS; DENMARK; DNA MUTATIONAL ANALYSIS; EPISTAXIS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PREVALENCE; RNA SPLICE SITES; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 84904699224     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12269     Document Type: Article

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