A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

Nature Genetics

Volumn 14, Issue 2, 1996, Pages 177-180

  Jin, H ^a   May, M ^a   Tranebjaerg, L ^a   Kendall, E ^a   Fontan, G ^a   Jackson, J ^a   Subramony, S H ^a   Arena, F ^a   Lubs, H ^a   Smith, S ^a   Stevenson, R ^a   Schwartz, C ^a   Vetrie, D ^a  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLINDNESS; CLINICAL FEATURE; DYSPHAGIA; DYSTONIA; GENE DELETION; GENE LOCATION; GENETIC SUSCEPTIBILITY; HUMAN; MENTAL DEFICIENCY; PARANOIA; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SPASTICITY; X CHROMOSOME LINKAGE;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLINDNESS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DYSTONIA; FRAMESHIFT MUTATION; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; PEDIGREE; PROMOTER REGIONS (GENETICS); PROTEINS; PSEUDOGENES; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; X CHROMOSOME;

SCHIZOSACCHAROMYCES POMBE;

EID: 16044366597     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1096-177     Document Type: Article

References (0)