Ezquerra, Mario

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. [electronic resource] - Archives of neurology Feb 2005 - 306-8 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0003-9942

10.1001/archneur.62.2.306 doi


Adult
DNA Mutational Analysis--methods
Deafness--genetics
Family Health
Female
Genetic Diseases, X-Linked--genetics
Humans
Introns--genetics
Male
Membrane Transport Proteins--genetics
Mitochondrial Precursor Protein Import Complex Proteins
Mutation--genetics
Pedigree
RNA, Messenger--biosynthesis
Reverse Transcriptase Polymerase Chain Reaction--methods