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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer-Verlag 2007
Témata:
Original Investigation
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky