Titre :
  • A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
Auteur : Lorenzetti, D ; Pareyson, D ; Sghirlanzoni, A ; Roa, B B ; Abbas, N E ; Pandolfo, Massimo ; di Donato, S ; Lupski, J R
Informations sur la publication : American journal of human genetics, 56, 1, (page 91-98)
Statut de publication : Publié, 1995-01
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Charcot-Marie-Tooth Disease -- genetics
Chromosomes, Human, Pair 17 -- ultrastructure
DNA Mutational Analysis
Electrophoresis, Gel, Pulsed-Field
Female
Gene Deletion
Hereditary Sensory and Motor Neuropathy -- genetics
Humans
Italy
Male
Myelin Proteins -- genetics
Pedigree
Polymorphism, Restriction Fragment Length
Recombination, Genetic
Note : Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue :
  • Anglais
Identificateurs : urn:issn:0002-9297 
info:pmid/7825607
info:pmcid/PMC1801301