TY  - GEN
AU  - Ezquerra,Mario
AU  - Campdelacreu,Jaume
AU  - Muñoz,Esteban
AU  - Tolosa,Eduardo
AU  - Martí,María J
TI  - A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome
SN  - 0003-9942
PY  - 2005///0401
KW  - Adult
KW  - DNA Mutational Analysis
KW  - methods
KW  - Deafness
KW  - genetics
KW  - Family Health
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Introns
KW  - Male
KW  - Membrane Transport Proteins
KW  - Mitochondrial Precursor Protein Import Complex Proteins
KW  - Mutation
KW  - Pedigree
KW  - RNA, Messenger
KW  - biosynthesis
KW  - Reverse Transcriptase Polymerase Chain Reaction
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1001/archneur.62.2.306
ER  -