Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia

Journal of Medical Genetics

Volumn 48, Issue 5, 2011, Pages 353-357

  Lee, Nadia Prigoda ^a   Matevski, Donco ^a   Dumitru, Daniela ^a   Piovesan, Beata ^a   Rushlow, Diane ^a   Gallie, Brenda L ^a,b  

^a TORONTO WESTERN HOSPITAL   (Canada)

^b PRINCESS MARGARET HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOGLIN;

ARTERIOVENOUS MALFORMATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; EPISTAXIS; GENE MUTATION; GENETIC SCREENING; HUMAN; MOSAICISM; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE;

ALLELES; ANTIGENS, CD; BASE SEQUENCE; CHILD; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MOSAICISM; MUTATION; PEDIGREE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 79955527732     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.088112     Document Type: Article

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