Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
第一作者:
Yvonne,Nitschke
第一单位:
Department of General Pediatrics, Münster University Children's Hospital, Germany.
作者:
医学主题词
血管样条纹(Angioid Streaks);碱基序列(Base Sequence);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);婴儿(Infant);男(雄)性(Male);分子序列数据(Molecular Sequence Data);多药耐药相关蛋白质类(Multidrug Resistance-Associated Proteins);突变(Mutation);磷酸二酯水解酶类(Phosphoric Diester Hydrolases);弹性假黄瘤(Pseudoxanthoma Elasticum);焦磷酸酶类(Pyrophosphatases);回顾性研究(Retrospective Studies)
DOI
10.1016/j.ajhg.2011.11.020
PMID
22209248
发布时间
2022-03-09
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