Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference8 articles.
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2. Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism;Wei;J Dermatol Sci,2011
3. NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients;Wei;Pigment Cell Melanoma Res,2016
4. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification;Schouten;Nucleic Acids Res,2002
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Cited by 3 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. Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome;Genes;2022-07-20
2. Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients;Journal of Investigative Dermatology;2021-11
3. Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update;European Journal of Human Genetics;2021-01-27
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