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 |