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pro vyhledávání: '"Karmele Saez de Gordoa Elizalde"'
Autor:
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f865a3df7d7ed2daec1921cda7964c
http://hdl.handle.net/2445/191265
http://hdl.handle.net/2445/191265