Titre:
  • Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Auteur:Seri, M; Yin, L; Barone, V; Bolino, A; Celli, I; Bocciardi, R; Pasini, B; Ceccherini, I; Lerone, M; Kristoffersson, U; Larsson, L T; Casasa, J M; Cass, D T; Abramowicz, Marc; Vanderwinden, Jean-Marie; Kravcenkiene, I; Baric, I; Silengo, M; Martucciello, G; Romeo, G
Informations sur la publication:Human mutation, 9, 3, page (243-249)
Statut de publication:Publié, 1997
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:DNA Mutational Analysis
Drosophila Proteins
Exons
Hirschsprung Disease -- genetics
Humans
Mutation
Point Mutation
Polymorphism, Single-Stranded Conformational
Proto-Oncogene Proteins -- genetics
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases -- genetics
Sequence Deletion
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
FLWIN
Langue:Anglais
Identificateurs:urn:issn:1059-7794
info:doi/10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8
info:pii/10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8
info:scp/16944365710
info:pmid/9090527