Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

Human Genetics

Volumn 108, Issue 1, 2001, Pages 51-54

  Bassi, M ^a,m,n   Bergen, Arthur ^a,b,m,n   Bitoun, Pierre ^a,c,m,n   Charles, Stephen ^a,d,m,n   Clementi, Maurizio ^a,e,m,n   Gosselin, Richard ^a,f,m,n   Hurst, Jane ^a,g,m,n   Lewis, Richard ^a,h,m,n   Lorenz, Birgit ^a,i,m,n   Meitinger, Thomas ^a,j,m,n   Messiaen, Ludwine ^a,k,m,n   Ramesar, Rajkumar ^a,l,m,n   Ballabio, Andrea ^a,m,n   Schiaffino, M ^a,m,n,o  

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

^b NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^c HÔPITAL JEAN VERDIER   (France)

^d MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^e UNIVERSITY OF PADOVA   (Italy)

^f Centre de Medecine Familiale de Granby   (Canada)

^g OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ UNIVERSITY OF REGENSBURG   (Germany)

^j UNIVERSITY OF MUNICH   (Germany)

^k GHENT UNIVERSITY HOSPITAL   (Belgium)

^l UNIVERSITY OF CAPE TOWN   (South Africa)

^m VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

ⁿ SECOND UNIVERSITY OF NAPLES   (Italy)

^o SAN RAFFAELE HOSPITAL   (Italy)

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Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; MEMBRANE PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; EUROPE; FEMALE; GENE DELETION; HUMAN; HUMAN CELL; HYPOPIGMENTATION; MALE; MISSENSE MUTATION; NORTH AMERICA; OCULAR ALBINISM; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; SCREENING; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER;

EID: 17744380598     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000440     Document Type: Article

References (9)

1. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
2. Cloning of the murine homologue of the ocular albinism type 1 (OA1) gene: Sequence, genomic structure and expression analysis in pigment cells
3. Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor
4. Albinism
5. X-linked ocular albinism: Prevalence and mutations - A national study
6. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
7. The ocular albinism type 1 (OA1) gene product is a membrane glycoprotein localized to melanosomes
8. Ocular albinism: Evidence for a defect in an intracellular signal transduction system
9. OA1 mutations and deletions in X-linked ocular albinism