Title: | Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene |
Journal : | European journal of human genetics, 13, 3 |
Authors: | Eggermann T ; Zerres K ; Anhuf D ; Kotzot D ; Fauth C ; Rudnik Schoneborn S |
Material Type: | Article |
Publication Date: | 2005 |
Size: | p. 309-313 |
Languages: | English |
Keywords : | case studies ; chromosome 5 ; diagnosis ; family ; family trees ; genetic counseling ; genetic deletions ; genetic linkage ; genetic mutations ; genetics ; SMN1 gene ; SMN1-related proximal spinal muscular atrophy ; somatic mosaicism |
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=15586177 |