Titre:
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Auteur:Messiaen, L M; Callens, T; Roux, K J; Mortier, Geert; De Paepe, Anne; Abramowicz, Marc; Pericak-Vance, M A; Vance, J M; Wallace, M R
Informations sur la publication:Genetics in medicine, 1, 6, page (248-253)
Statut de publication:Publié, 1999
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Aged
Aged, 80 and over
Base Sequence
Child
Child, Preschool
DNA Mutational Analysis
DNA, Complementary -- metabolism
Exons
Female
Humans
Male
Models, Genetic
Molecular Sequence Data
Mutation, Missense
Nerve Tissue Proteins -- genetics
Neurofibromin 1
Open Reading Frames
Polymorphism, Genetic
Protein Biosynthesis
RNA Splicing
Reverse Transcriptase Polymerase Chain Reaction
Transcription, Genetic
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, U.S. Gov't, P.H.S.
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1098-3600
info:scp/0033188212
info:pmid/11258625