Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change.
Racz
Emoke
E
Csikós
Márta
M
Benko
Réka
R
Kornseé
Zoltán
Z
Kárpáti
Sarolta
S
D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D007644:Darier Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D006814:Hungary; D007438:Introns; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D022821:RNA Splice Sites; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; D017384:Sequence Deletion
D018076:DNA, Complementary; D022821:RNA Splice Sites; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases