Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: Illustration of complexity in molecular diagnostic interpretation

Journal of Molecular Diagnostics

Volumn 11, Issue 6, 2009, Pages 569-575

  McDonald, Jamie ^a,b   Gedge, Friederike ^a   Burdette, Allene ^b   Carlisle, James ^b   Bukjiok, Changkuoth Jock ^b   Fox, Michelle ^c   Bayrak Toydemir, Pinar ^a,b  

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

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

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENG GENE; EXON; FEMALE; GENE; HUMAN; MISSENSE MUTATION; PATHOGENICITY; PHENOTYPE; RENDU OSLER WEBER DISEASE; SCHOOL CHILD;

EID: 70350453921     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.080148     Document Type: Article

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