Publication: Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects
| dc.contributor.authors | Rooryck, Caroline; Morice-Picard, Fanny; Elcioglu, Nursel H.; Lacombe, Didier; Taieb, Alain; Arveiler, Benoit | |
| dc.date.accessioned | 2022-04-25T00:10:26Z | |
| dc.date.accessioned | 2026-01-11T08:28:14Z | |
| dc.date.available | 2022-04-25T00:10:26Z | |
| dc.date.issued | 2008 | |
| dc.identifier.doi | 10.1111/j.1755-148X.2008.00496.x | |
| dc.identifier.issn | 1755-1471 | |
| dc.identifier.pubmed | 18821858 | |
| dc.identifier.uri | https://hdl.handle.net/11424/263677 | |
| dc.identifier.wos | WOS:000259352300015 | |
| dc.language | eng | |
| dc.publisher | WILEY-BLACKWELL | |
| dc.relation.ispartof | PIGMENT CELL & MELANOMA RESEARCH | |
| dc.rights | info:eu-repo/semantics/closedAccess | |
| dc.subject | oculocutaneous albinism | |
| dc.subject | tyrosinase | |
| dc.subject | OCA2 | |
| dc.subject | TYRP1 | |
| dc.subject | SLC45A2 | |
| dc.subject | ENDOPLASMIC-RETICULUM | |
| dc.subject | TYROSINASE | |
| dc.subject | LEUKODYSTROPHY | |
| dc.title | Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects | |
| dc.type | other | |
| dc.type.sub | letter | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 587 | |
| oaire.citation.issue | 5 | |
| oaire.citation.startPage | 583 | |
| oaire.citation.title | PIGMENT CELL & MELANOMA RESEARCH | |
| oaire.citation.volume | 21 |
