Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Ruud G. L. Nellen; Peter M. Steijlen; Maurice A. M. van Steensel; Maaike Vreeburg; Jorge Frank; Michel van Geel; European Professional Contributors

doi:10.1002/humu.23164

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Ruud G. L. Nellen^*, Peter M. Steijlen, Maurice A. M. van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel, European Professional Contributors

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

29 Citations (Web of Science)

Original language	English
Pages (from-to)	343-356
Number of pages	14
Journal	Human Mutation
Volume	38
Issue number	4
DOIs	https://doi.org/10.1002/humu.23164
Publication status	Published - Apr 2017

Keywords

Darier disease
Hailey-Hailey disease
acrokeratosis verruciformis of Hopf
ATP2A2
ATP2C1
SERCA2
SPCA1
locus-specific database
genotype-phenotype correlation
RETICULUM CA2+-ATPASE MUTANTS
ISRAEL COMBINED EVALUATION
HUMAN INHERITED DISEASE
CHINESE PATIENTS
ACROKERATOSIS VERRUCIFORMIS
CLINICAL-FEATURES
CA2+ PUMP
NEUROPSYCHIATRIC ASPECTS
CULTURED KERATINOCYTES
MISSENSE MUTATION

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10.1002/humu.23164

Cite this

Nellen, R. G. L., Steijlen, P. M., van Steensel, M. A. M., Vreeburg, M., Frank, J., van Geel, M., & European Professional Contributors (2017). Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. Human Mutation, 38(4), 343-356. https://doi.org/10.1002/humu.23164

Nellen, Ruud G. L. ; Steijlen, Peter M. ; van Steensel, Maurice A. M. ; Vreeburg, Maaike ; Frank, Jorge ; van Geel, Michel ; European Professional Contributors. / Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps : Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. In: Human Mutation. 2017 ; Vol. 38, No. 4. pp. 343-356.

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title = "Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease",

keywords = "Darier disease, Hailey-Hailey disease, acrokeratosis verruciformis of Hopf, ATP2A2, ATP2C1, SERCA2, SPCA1, locus-specific database, genotype-phenotype correlation, RETICULUM CA2+-ATPASE MUTANTS, ISRAEL COMBINED EVALUATION, HUMAN INHERITED DISEASE, CHINESE PATIENTS, ACROKERATOSIS VERRUCIFORMIS, CLINICAL-FEATURES, CA2+ PUMP, NEUROPSYCHIATRIC ASPECTS, CULTURED KERATINOCYTES, MISSENSE MUTATION",

author = "Nellen, {Ruud G. L.} and Steijlen, {Peter M.} and {van Steensel}, {Maurice A. M.} and Maaike Vreeburg and Jorge Frank and {van Geel}, Michel and {European Professional Contributors}",

year = "2017",

month = apr,

doi = "10.1002/humu.23164",

language = "English",

volume = "38",

pages = "343--356",

journal = "Human Mutation",

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Nellen, RGL, Steijlen, PM, van Steensel, MAM, Vreeburg, M, Frank, J, van Geel, M & European Professional Contributors 2017, 'Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease', Human Mutation, vol. 38, no. 4, pp. 343-356. https://doi.org/10.1002/humu.23164

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps : Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. / Nellen, Ruud G. L.; Steijlen, Peter M.; van Steensel, Maurice A. M.; Vreeburg, Maaike; Frank, Jorge; van Geel, Michel; European Professional Contributors.

In: Human Mutation, Vol. 38, No. 4, 04.2017, p. 343-356.

Research output: Contribution to journal › Article › Academic › peer-review

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KW - NEUROPSYCHIATRIC ASPECTS

KW - CULTURED KERATINOCYTES

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