Hereditary hemorrhagic telangiectasia: Evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

European Journal of Human Genetics

Volumn 16, Issue 6, 2008, Pages 742-749

  Lesca, Gaetan ^a   Genin, Emmanuelle ^b   Blachier, Claire ^a   Olivieri, Carla ^c   Coulet, Florence ^d   Brunet, Guy ^e   Dupuis Girod, Sophie ^a   Buscarini, Elisabetta ^f   Soubrier, Florent ^d   Calender, Alain ^a   Danesino, Cesare ^c   Giraud, Sophie ^a   Plauchu, Henri ^a  

^a UNIVERSITÉ DE LYON   (France)

^b INSERM   (France)

^c UNIVERSITY OF PAVIA   (Italy)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITÉ LUMIÈRE LYON 2   (France)

^f MAGGIORE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR; ACTIVIN RECEPTOR LIKE KINASE TYPE 1;

ARTERIOVENOUS MALFORMATION; ARTICLE; CLINICAL FEATURE; COMPUTER PROGRAM; FOUNDER EFFECT; FRANCE; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

ACTIVIN RECEPTORS, TYPE II; BASE SEQUENCE; DNA PRIMERS; FOUNDER EFFECT; FRANCE; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; ITALY; POINT MUTATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 44449099677     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.3     Document Type: Article

References (23)

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