Hereditary haemorrhagic telangiectasia: Mutation detection, test sensitivity and novel mutations

Journal of Medical Genetics

Volumn 43, Issue 9, 2006, Pages 722-728

  Prigoda, N L ^b   Savas, S ^c,d   Abdalla, S A ^e   Piovesan, B ^b   Rushlow, D ^b   Vandezande, K ^b   Zhang, E ^b   Ozcelik, H ^c,d   Gallie, B L ^b   Letarte, Michelle ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b TORONTO WESTERN HOSPITAL   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTERIOVENOUS MALFORMATION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DNA POLYMORPHISM; EXON; FAMILY STUDY; GENE MUTATION; GENETIC DISORDER; HUMAN; MADH4 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; POLYPOSIS; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; RISK FACTOR; RNA ANALYSIS; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE;

ACTIVIN RECEPTORS, TYPE II; ANTIGENS, CD; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INTRONS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, CELL SURFACE; SENSITIVITY AND SPECIFICITY; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 33749239827     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042606     Document Type: Article

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