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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome

de Bernabe, DBV; Voit, T; Longman, C; Steinbrecher, A; Straub, V; Yuva, Y; Herrmann, R; ... Muntoni, F; + view all (2004) Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J MED GENET , 41 (5) , Article e61. 10.1136/jmg.2003.013870.

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Type: Article
Title: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
DOI: 10.1136/jmg.2003.013870
Keywords: CONGENITAL MUSCULAR-DYSTROPHY, NEURONAL MIGRATION, ALPHA-DYSTROGLYCAN, PROTEIN GENE, ABNORMAL GLYCOSYLATION, GLYCOPROTEIN COMPLEX, MENTAL-RETARDATION, FUKUTIN GENE, DEFICIENCY, GLYCOSYLTRANSFERASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/130811
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