Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis-Reference-Cited by-同舟云学术

Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis

Published:2018-02-23 Issue:5 Volume:63 Page:597-604
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Suspitsin Evgeny N.^ORCID,Yanus Grigoriy A.,Dorofeeva Marina Yu.,Ledashcheva Tatiana A.,Nikitina Nataliya V.,Buyanova Galina V.,Saifullina Elena V.,Sokolenko Anna P.,Imyanitov Evgeny N.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0416-0.pdf

Reference43 articles.

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2. Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987;1:659–61.

3. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805–8.

4. Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet. 1992;2:37–41.

5. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305–15.

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