Title: | Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A |
Journal : | Nature genetics, 5, 2 |
Authors: | Roa BB ; Garcia CA ; Pentao L ; Killian JM ; Trask BJ ; Suter U ; Snipes GJ ; Ortiz-Lopez R ; Shooter EM ; Patel PI ; Lupski JR |
Material Type: | Article |
Publication Date: | 1993 |
Size: | p. 189-194 |
Languages: | English |
Keywords : | autosomal recessive inheritance ; CMT1A ; family trees ; FISH ; genetic deletions ; genetic mapping ; hereditary neuropathy with liability to pressure palsies ; PMP22 gene ; point mutations ; pulsed field gel electrophoresis ; sequencing ; Southern blot |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8252046&query_hl=18 |