par Désir, Julie 
;Moya, Graciela;Reish, Orit;Van Regemorter, Nicole ;Deconinck, Hilde;David, Karen L;Meire, Françoise M;Abramowicz, Marc
Référence Journal of medical genetics, 44, 5, page (322-326)
Publication Publié, 2007-05
;Moya, Graciela;Reish, Orit;Van Regemorter, Nicole ;Deconinck, Hilde;David, Karen L;Meire, Françoise M;Abramowicz, Marc Référence Journal of medical genetics, 44, 5, page (322-326)
Publication Publié, 2007-05
Article révisé par les pairs
| Titre: |
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| Auteur: | Désir, Julie; Moya, Graciela; Reish, Orit; Van Regemorter, Nicole; Deconinck, Hilde; David, Karen L; Meire, Françoise M; Abramowicz, Marc |
| Informations sur la publication: | Journal of medical genetics, 44, 5, page (322-326) |
| Statut de publication: | Publié, 2007-05 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| MeSH keywords: | Abnormalities, Multiple -- genetics |
| Adolescent | |
| Adult | |
| Amino Acid Sequence | |
| Anion Transport Proteins -- chemistry | |
| Anion Transport Proteins -- genetics | |
| Antiporters -- chemistry | |
| Antiporters -- genetics | |
| Base Sequence | |
| Borates -- metabolism | |
| Child | |
| Child, Preschool | |
| Corneal Dystrophies, Hereditary -- genetics | |
| DNA Mutational Analysis | |
| Endothelium -- abnormalities | |
| Hearing Loss, Sensorineural -- genetics | |
| Humans | |
| Male | |
| Molecular Sequence Data | |
| Mutation -- genetics | |
| Pedigree | |
| Syndrome | |
| Note générale: | Journal Article |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0022-2593 |
| info:doi/10.1136/jmg.2006.046904 | |
| info:pii/jmg.2006.046904 | |
| info:scp/34248332574 | |
| info:pmid/17220209 |
