Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex-Reference-Cited by-同舟云学术

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

Published:2010-02-18 Issue:5 Volume:127 Page:573-582
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Qin Wei,Kozlowski Piotr,Taillon Bruce E.,Bouffard Pascal,Holmes Alison J.,Janne Pasi,Camposano Susana,Thiele Elizabeth,Franz David,Kwiatkowski David J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0801-z.pdf

Reference40 articles.

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3. Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ (2000) Molecular genetic advances in tuberous sclerosis. Hum Genet 107:97–114

4. Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345–1356

5. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80

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