Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability
Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability
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两个具有家族内变异的 Darier 病家族 ATP2A2 基因突变分析
DOI：
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发表时间：
2004
影响因子：
10.3
通讯作者：
H. Shimizu
中科院分区：
文献类型：
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作者：
T. Onozuka;D. Sawamura;K. Yokota;H. Shimizu
背景达里尔病（DD）是一种常染色体显性遗传皮肤病，其特征是脂溢性区域出现疣状丘疹和斑块，由ATP 2A 2基因突变引起，该基因编码肌浆网/内质网Ca 2 + ATP酶2型亚型（SERCA 2）。 虽然已知DD受累家族成员的临床严重程度存在显著差异，但尚未阐明病理机制。
Background Darier disease (DD), an autosomal dominant genodermatosis characterized by warty papules and plaques over seborrhoeic areas, is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase type 2 isoform (SERCA2). While markedly different clinical severity within DD‐affected family members is known, the pathomechanism has not been elucidated.