title: A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
authors.forename: R P
authors.initials: RP
authors.lastname: Cotarelo
authors.forename: O
authors.initials: O
authors.lastname: Fano
authors.forename: M
authors.initials: M
authors.lastname: Raducu
authors.forename: A
authors.initials: A
authors.lastname: Peña
authors.forename: P
authors.initials: P
authors.lastname: Tarilonte
authors.forename: F
authors.initials: F
authors.lastname: Mateos
authors.forename: R
authors.initials: R
authors.lastname: Simón
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Cruces
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005190:Family; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D008364:Mannosyltransferases / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D013030:Spain; D013577:Syndrome; D044465:White People / Q000235:genetics*
chemical_list: D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase