Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1 ; relevance for mutation detection
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Abnormalities of Pigmentation;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
2. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function;Pigment Cell Research;2006-02
3. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases;Human Mutation;2002-11-19
4. Random mutagenesis-PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods;Human Mutation;2001
5. Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking;Thrombosis and Haemostasis;2001
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