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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2007
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914248/
https://www.ncbi.nlm.nih.gov/pubmed/17436019
http://dx.doi.org/10.1007/s00439-007-0362-y

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