Work

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

Year: 2004

Type: article

Source: Human Genetics

DOI: 10.1007/s00439-004-1134-6

Authors: EmmaT. Tonkin, Melanie Smith, Piet Eichhorn, Sandie Jones, Burhan Imamwerdi, Susan Lindsay, Mike Jackson, Tzu-Jou Wang, Maggie Ireland, John Burn, IanD. Krantz, Philippa Carr, Tom Strachan

Institutions: Centre for Life, Newcastle University, University of Newcastle Australia, Children's Hospital of Philadelphia, University of Pennsylvania, Wellcome Sanger Institute

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Wellcome Trust, Medical Research Council, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: Molecular Analysis of the Cornelia de Lange Syndrome

OpenAlex ID: W1964368672

FWCI: 1.603

Cites: 46

Cited by: 59

Related to: 10