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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Autors principals: 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
Idioma:Inglês
Publicat: Springer-Verlag 2007
Matèries:
Original Investigation
Accés en línia: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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