Missense mutation in the choroideremia gene.
Donnelly
P
P
Genetics Laboratory, University Hospital, Nantes, France.
Menet
H
H
Fouanon
C
C
Herbert
O
O
Moisan
J P
JP
Le Roux
M G
MG
Pascal
O
O
D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics; D015794:Choroideremia / Q000097:blood / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D017354:Point Mutation; D051381:Rats; D015183:Restriction Mapping; D012727:Sex Characteristics; D013379:Substrate Specificity; D014960:X Chromosome; D020691:rab GTP-Binding Proteins
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; D002352:Carrier Proteins; C513166:Chm protein, rat; D019883:Alkyl and Aryl Transferases; C056434:endodeoxyribonuclease BsrI; D015252:Deoxyribonucleases, Type II Site-Specific; D020691:rab GTP-Binding Proteins