Title: | A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease |
Journal : | Annals of human genetics, In advance of print, 2008 Jan 31 |
Authors: | Chung KW ; Kim SM ; Sunwoo IN ; Cho SY ; Hwang SJ ; Kim J ; Kang SH ; Park KD ; Choi KG ; Choi IS ; Choi BO |
Material Type: | Article |
Publication Date: | 2008 |
Size: | 5 p. |
Languages: | English |
Keywords : | case studies ; CMT2 autosomal dominant form ; demyelination ; electrodiagnosis ; electron microscopy ; family trees ; GDAP1 gene ; genetic mutations ; histochemistry ; Korea ; molecular genetics ; nerve biopsies ; nervous degeneration ; nervous system histopathology ; nucleotide sequences |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/18231710?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |