Clinical variability and probable founder effect in oculocutaneous albinism type 7.
| dc.rights.license | open | en_US |
| dc.contributor.author | BATAILLE, Pauline | |
| dc.contributor.author | MICHAUD, Vincent | |
| dc.contributor.author | ROBERT, Matthieu P | |
| dc.contributor.author | BEKEL, Lilia | |
| dc.contributor.author | LECLERC-MERCIER, Stéphanie | |
| dc.contributor.author | HARROCHE, Annie | |
| dc.contributor.author | CELERIER, Charlotte | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| dc.contributor.author | BORGEL, Delphine | |
| dc.contributor.author | BREMOND-GIGNAC, Dominique | |
| dc.contributor.author | BODEMER, Christine | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.contributor.author | HADJ-RABIA, Smaïl | |
| dc.date.accessioned | 2022-11-29T16:42:16Z | |
| dc.date.available | 2022-11-29T16:42:16Z | |
| dc.date.issued | 2020-03-01 | |
| dc.identifier.issn | 1399-0004 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/170424 | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Albinism | |
| dc.subject.en | Oculocutaneous | |
| dc.subject.en | Child | |
| dc.subject.en | Female | |
| dc.subject.en | Founder Effect | |
| dc.subject.en | Genetic Predisposition to Disease | |
| dc.subject.en | Humans | |
| dc.subject.en | Membrane Proteins | |
| dc.subject.en | Pedigree | |
| dc.subject.en | Receptors | |
| dc.subject.en | LDL | |
| dc.title.en | Clinical variability and probable founder effect in oculocutaneous albinism type 7. | |
| dc.title.alternative | Clin Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1111/cge.13655 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | en_US |
| dc.identifier.pubmed | 31694064 | en_US |
| bordeaux.journal | Clinical Genetics | en_US |
| bordeaux.page | 527-528 | en_US |
| bordeaux.volume | 97 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 3 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-03878371 | |
| hal.version | 1 | |
| hal.date.transferred | 2022-11-29T16:42:21Z | |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical%20Genetics&rft.date=2020-03-01&rft.volume=97&rft.issue=3&rft.spage=527-528&rft.epage=527-528&rft.eissn=1399-0004&rft.issn=1399-0004&rft.au=BATAILLE,%20Pauline&MICHAUD,%20Vincent&ROBERT,%20Matthieu%20P&BEKEL,%20Lilia&LECLERC-MERCIER,%20St%C3%A9phanie&rft.genre=article |
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