Molecular and clinical characterization of albinism in a large cohort of Italian patients

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 3, 2011, Pages 1281-1289

  Gargiulo, Annagiusi ^a   Testa, Francesco ^b   Rossi, Settimio ^b   di Iorio, Valentina ^b   Fecarotta, Simona ^a   de Berardinis, Teresa ^c   Iovine, Antonello ^c   Magli, Adriano ^c   Signorini, Sabrina ^d   Fazzi, Elisa ^e   Galantuomo, Maria Silvana ^f   Fossarello, Maurizio ^f   Montefusco, Sandro ^g   Ciccodicola, Alfredo ^h   Neri, Alberto ⁱ   Macaluso, Claudio ⁱ   Simonelli, Francesca ^b   Surace, Enrico Maria ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF BRESCIA   (Italy)

^f UNIVERSITY OF CAGLIARI   (Italy)

^g UNIVERSITY OF SALERNO   (Italy)

^h INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

ⁱ UNIVERSITY OF PARMA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HAIR; HUMAN; HUMAN CELL; HYPOPIGMENTATION; IRIS; ITALY; MALE; MATP GENE; MUTATIONAL ANALYSIS; OA1 GENE; OCULAR ALBINISM; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; P GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA LUTEA; SCHOOL CHILD; SKIN; SLC45A2 GENE; TYR GENE; TYRP1 GENE;

ADOLESCENT; ADULT; ALBINISM, OCULOCUTANEOUS; ALLELES; ANTIGENS, NEOPLASM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MONOPHENOL MONOOXYGENASE; MUTATION; OXIDOREDUCTASES; POLYMERASE CHAIN REACTION; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 79955937460     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6091     Document Type: Article

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