A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.
Laboratorio di Genetica Molecolare, Unità Operativa Complessa di Genetica Medica, IRCCS Associazione Oasi Maria SS., Troina, Enna, Italy - cromano@oasi.en.it.
Valeria
V
Chiavetta
Corrado
C
Romano
Francesco
F
Calì
Giuseppa
G
Ruggeri
Maddalena
M
Siragusa
Donatella
D
Greco
Valentino
V
Romano
Carmelo
C
Schepis
D000328:Adult; D007644:Darier Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
D022821:RNA Splice Sites; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human