Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome-Reference-Cited by-同舟云学术

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Published:2007-04-14 Issue:6 Volume:121 Page:685-690
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

van Reeuwijk Jeroen,Grewal Prabhjit K.,Salih Mustafa A. M.,Beltrán-Valero de Bernabé Daniel,McLaughlan Jenny M.,Michielse Caroline B.,Herrmann Ralf,Hewitt Jane E.,Steinbrecher Alice,Seidahmed Mohamed Z.,Shaheed Mohamed M.,Abomelha Abdullah,Brunner Han G.,van Bokhoven Hans,Voit Thomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-007-0362-y.pdf

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4. Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP (2004) LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10:696–703

5. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der ZB, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033–1043

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