Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of α-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, man...

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Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Springer-Verlag 2007
Teme:
Original Investigation
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914248/
https://ncbi.nlm.nih.gov/pubmed/17436019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-007-0362-y
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