Molecular diagnosis in hereditary hemorrhagic telangiectasia: Findings in a series tested simultaneously by sequencing and deletion/duplication analysis

Clinical Genetics

Volumn 79, Issue 4, 2011, Pages 335-344

  Mcdonald, J ^a,b   Damjanovich, K ^c   Millson, A ^c   Wooderchak, W ^c   Chibuk, J M ^d   Stevenson, D A ^b   Gedge, F ^c   Bayrak Toydemir, P ^b,c  

^a Department of Radiology   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

ACVRL1; ENG; Genetic testing; Hereditary hemorrhagic telangiectasia; Hypomorphic alleles; Mosaicism; Novel mutations; Osler; Rendu; Weber

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN;

AGED; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN FRAME MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOSAICISM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REGULATORY MUTATION; RENDU OSLER WEBER DISEASE; SPLICE SITE MUTATION;

ACTIVIN RECEPTORS, TYPE II; ANTIGENS, CD; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENE DUPLICATION; HUMANS; MOSAICISM; MUTATION; MUTATION, MISSENSE; RECEPTORS, CELL SURFACE; RNA SPLICE SITES; SEQUENCE DELETION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 79952221104     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01596.x     Document Type: Article

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