Article révisé par les pairs
Titre:
  • Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
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

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