A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome

Archives of Neurology

Volumn 62, Issue 2, 2005, Pages 306-308

  Ezquerra, Mario ^a   Campdelacreu, Jaume ^a   Muñoz, Esteban ^a   Tolosa, Eduardo ^a   Marti, Maria J ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; DYSTONIA; DYSTONIA DEAFNESS PEPTIDE GENE; EXON; FAMILIAL DISEASE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MALE; MUTAGENESIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKED DISORDER; X LINKED DYSTONIA DEAFNESS SYNDROME;

ADULT; DEAFNESS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INTRONS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 13444267649     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.2.306     Document Type: Article

References (11)

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