Five novel RPGR mutations in families with X-linked retinitis pigmentosa.

Human mutation

Volumn 17, Issue 2, 2001, Pages 151-

  Guevara Fujita, M ^a   Fahrner, S ^a   Buraczynska, K ^a   Cook, J ^a   Wheaton, D ^a   Cortes, F ^a   Vicencio, C ^a   Pena, M ^a   Fishman, G ^a   Mintz Hittner, H ^a   Birch, D ^a   Hoffman, D ^a   Mears, A ^a   Fujita, R ^a   Swaroop, A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; DNA; EYE PROTEIN; RPGR PROTEIN, HUMAN;

ARTICLE; CHEMISTRY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC LINKAGE; GENETICS; HUMAN; MALE; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETINITIS PIGMENTOSA; X CHROMOSOME;

CARRIER PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; RETINITIS PIGMENTOSA; SEQUENCE DELETION; X CHROMOSOME;

MLCS; MLOWN;

EID: 0035260503     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200102)17:2<151::aid-humu7>3.0.co;2-w     Document Type: Article

References (0)