par Prattichizzo, C.;Macca, M.;Novelli, Vas;Giorgio, G.;Barra, A.;Franco, B.;Oral-Facial-Digital Type I (OFDI) Collaborative Group, ,;Abramowicz, Marc 
Référence Human mutation, 29, 10, page (1237-1246)
Publication Publié, 2008-10
Référence Human mutation, 29, 10, page (1237-1246)
Publication Publié, 2008-10
Article révisé par les pairs
| Titre: |
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| Auteur: | Prattichizzo, C.; Macca, M.; Novelli, Vas; Giorgio, G.; Barra, A.; Franco, B.; Oral-Facial-Digital Type I (OFDI) Collaborative Group, ,; Abramowicz, Marc |
| Informations sur la publication: | Human mutation, 29, 10, page (1237-1246) |
| Statut de publication: | Publié, 2008-10 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Mots-clés: | Mutation analysis |
| OFD1 | |
| OFDI | |
| Primary ciliary dysfunction | |
| X-linked dominant male lethal | |
| MeSH keywords: | Adolescent |
| Amino Acid Sequence | |
| Child | |
| Cohort Studies | |
| DNA Mutational Analysis | |
| Female | |
| Genotype | |
| Humans | |
| Male | |
| Molecular Sequence Data | |
| Mutation | |
| Orofaciodigital Syndromes -- genetics | |
| Orofaciodigital Syndromes -- pathology | |
| Phenotype | |
| Proteins -- genetics | |
| Sequence Alignment | |
| Note générale: | Journal Article |
| Research Support, Non-U.S. Gov't | |
| FLWIN | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1059-7794 |
| info:doi/10.1002/humu.20792 | |
| info:scp/55349129995 | |
| info:pmid/18546297 |
