Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism
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- 作者：Kevin J. O'Briena ; Jay Lozierb ; Andrew R. Cullinanec ; d ; Brigitte Osorioa ; Khanh Nghiemb ; Vladislav Speranskye ; Wadih M. Zeinf ; James C. Mulliking ; Anne T. Neffh ; Karen L. Simonc ; May Christine V. Malicdanc ; i ; William A. Gahla ; c ; i ; Lisa R. Youngj ; k ; Bernadette R. Gochuicoc ; gochuicb@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author
- 关键词：Hermansky-Pudlak syndrome ; Platelet storage pool disorder ; Oculocutaneous albinism ; Christmas disease ; Hemophilia B ; Factor IX deficiency
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：119
- 期：3
- 页码：284-287
- 全文大小：558 K
文摘
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Two independent inherited bleeding disorders can occur in the same patient.
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Whole exome and Sanger sequencing identify a novel mutation in HPS6.
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Hermansky-Pudlak syndrome subtype 6 is diagnosed in an adult with hemophilia B.