Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change

Emoke Racz; Márta Csikós; Réka Benko; Zoltán Kornseé; Sarolta Kárpáti

doi:10.1016/j.jdermsci.2005.03.005

Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change

Emoke Racz, Márta Csikós, Réka Benko, Zoltán Kornseé, Sarolta Kárpáti

Onderzoeksoutput › Academic › peer review

12 Citaten (Scopus)

Originele taal-2	English
Pagina's (van-tot)	231-234
Aantal pagina's	4
Tijdschrift	Journal of dermatological science
Volume	38
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1016/j.jdermsci.2005.03.005
Status	Published - jun.-2005

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10.1016/j.jdermsci.2005.03.005

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Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change
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title = "Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change",

keywords = "Base Sequence, Calcium-Transporting ATPases/genetics, DNA, Complementary/genetics, Darier Disease/genetics, Female, Humans, Hungary, Introns, Male, Mutation, Mutation, Missense, Pedigree, RNA Splice Sites, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Sequence Deletion",

author = "Emoke Racz and M{\'a}rta Csik{\'o}s and R{\'e}ka Benko and Zolt{\'a}n Kornse{\'e} and Sarolta K{\'a}rp{\'a}ti",

year = "2005",

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language = "English",

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T1 - Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change

AU - Racz, Emoke

AU - Csikós, Márta

AU - Benko, Réka

AU - Kornseé, Zoltán

AU - Kárpáti, Sarolta

PY - 2005/6

Y1 - 2005/6

KW - Base Sequence

KW - Calcium-Transporting ATPases/genetics

KW - DNA, Complementary/genetics

KW - Darier Disease/genetics

KW - Female

KW - Humans

KW - Hungary

KW - Introns

KW - Male

KW - Mutation

KW - Mutation, Missense

KW - Pedigree

KW - RNA Splice Sites

KW - Sarcoplasmic Reticulum Calcium-Transporting ATPases

KW - Sequence Deletion

U2 - 10.1016/j.jdermsci.2005.03.005

DO - 10.1016/j.jdermsci.2005.03.005

M3 - Article

C2 - 15927817

SN - 0923-1811

VL - 38

SP - 231

EP - 234

JO - Journal of dermatological science

JF - Journal of dermatological science

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