Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 306-308

  Fryssira, Helena ^a   Palmer, Rodger ^b   Hallidie Smith, Katherine A ^c   Taylor, James ^c   Donnai, Dian ^d   Reardon, William ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Qu Elizabeth Hospital for Children   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Elastin locus; FISH; Supravalvular aortic stenosis

Indexed keywords

ELASTIN;

ADOLESCENT; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CASE REPORT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCUS; HEMIZYGOSITY; HUMAN; PRIORITY JOURNAL;

EID: 0030915877     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.306     Document Type: Article

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