A large-scale study of the random variability of a coding sequence: a study on the CFTR gene-Reference-Cited by-同舟云学术

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene

Published:2004-11-10 Issue:2 Volume:13 Page:184-192
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Modiano Guido,Bombieri Cristina,Ciminelli Bianca Maria,Belpinati Francesca,Giorgi Silvia,Georges Marie des,Scotet Virginie,Pompei Fiorenza,Ciccacci Cinzia,Guittard Caroline,Audrézet Marie Pierre,Begnini Angela,Toepfer Michael,Macek Milan,Ferec Claude,Claustres Mireille,Pignatti Pier Franco

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201306.pdf

Reference22 articles.

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2. Pagani F, Stuani C, Tzetis M et al: New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet 2003; 12: 1111–1120.

3. Nickerson DA, Taylor SL, Weiss KM et al: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genet 1998; 19: 233–240.

4. Cargill M, Altshuler D, Ireland J et al: Characterisation of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet 1999; 22: 231–238.

5. Halushka MK, Fan JB, Bentley K et al: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet 1999; 22: 239–247.

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