title: Detection of the first OCA6 Italian patient in a large cohort of albino subjects.
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Veniani
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Mauri
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Manfredini
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Giovanni P
authors.initials: GP
authors.lastname: Gesu
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Patrosso
authors.affiliation: UOC Medical Genetics-"IRCCS Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.affiliation: UOC Medical Genetics-"IRCCS Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: D'Agruma
authors.affiliation: Pediatric Ophthalmolgy Department, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Longo
authors.affiliation: Pediatric Ophthalmolgy Department, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Mazza
authors.affiliation: Pediatric Ophthalmolgy Department, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Piozzi
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.affiliation: Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address: paola.primignani@ospedaleniguarda.it.
authors.forename: Paola
authors.initials: P
authors.lastname: Primignani
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D000951:Antigens, Neoplasm; D005819:Genetic Markers; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human
keywords: Mutational analysis; OCA6; Oculocutaneous albinism; SLC24A5