@article{9cd50d6c907f4c509bce043c13e5b05c,
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",
issn = "1059-7794",
publisher = "Wiley",
number = "4",
}