- Tytuł:
- Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Apr; Vol. 18 (4), pp. 421-8. Date of Electronic Publication: 2009 Nov 04.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Charcot-Marie-Tooth Disease/*genetics
Gene Dosage/*genetics
Genetic Variation/*genetics
Microtubule Proteins/*genetics
Myelin Proteins/*metabolism
Adult ; Blotting, Southern ; Chromosome Segregation ; Comparative Genomic Hybridization ; Female ; Gene Duplication ; Haplotypes ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Myelin Proteins/genetics ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Young Adult
Czasopismo naukowe