Title: | A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene |
Journal : | American journal of human genetics (The), 67 |
Authors: | Mersiyanova IV ; Perepelov AV ; Sitnikov VF ; Dadali EL ; Oparin RB ; Petrin AN ; Evgrafov OV |
Material Type: | Article |
Publication Date: | 2000 |
Size: | p. 37-46 |
Languages: | English |
Keywords : | associated diseases ; axonal forms of CMT ; chromosome 8 ; gene localization ; genetic mutations ; NEFL gene ; neurofilament light chain ; Russia ; skin diseases |