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
Mots-clés MeSH : 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 : 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:pmid/11258625