A novel mutation (S558X) causing choroideremia

Human Mutation

Volumn 8, Issue 4, 1996, Pages 395-

  Beaufrere, L ^a   Tuffery, S ^a   Hamel, C ^a   Arnaud, B ^a   Demaille, J ^a   Claustres, M ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; GENE MUTATION; HUMAN; NIGHT BLINDNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DEGENERATION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALKYL AND ARYL TRANSFERASES; CARRIER PROTEINS; CHOROIDEREMIA; DNA; FAMILY; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN ISOPRENYLATION; RAB GTP-BINDING PROTEINS; X CHROMOSOME;

EID: 0029797882     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<395::AID-HUMU23>3.0.CO;2-X     Document Type: Article

References (0)