Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
复合杂合桥粒蛋白突变会导致心肌、皮肤、毛发和牙釉质异常的组合表型
期刊:Journal of Investigative Dermatology
影响因子:5.7
doi:10.1038/jid.2009.357
Mahoney My G, Sadowski Sara, Brennan Donna, Pikander Pekka, Saukko Pekka, Wahl James, Aho Heikki, Heikinheimo Kristiina, Bruckner-Tuderman Leena, Fertala Andrzej, Peltonen Juha, Uitto Jouni, Peltonen Sirkku
