HuGE Literature Finder
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Records 1-7
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Journal of human genetics 2016 Oct . Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao |
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
Gene 2014 Jan 533 (1): 398-402. Mauri Lucia, Barone Luca, Al Oum Muna, Del Longo Alessandra, Piozzi Elena, Manfredini Emanuela, Stanzial Franco, Benedicenti Francesco, Penco Silvana, Patrosso Maria Cristi |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism.
Chinese medical journal 2013 Jan 126 (2): 226-30. Wei Ai-Hua, Yang Xiu-Min, Lian Shi, Li W |
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Journal of dermatological science 2011 May 62 (2): 124-7. Wei Aihua, Yang Xiumin, Lian Shi, Li W |
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
The Journal of investigative dermatology 2010 Mar 130 (3): 716-24. Wei Aihua, Wang Yu, Long Yan, Wang Yi, Guo Xiaoli, Zhou Zhiyong, Zhu Wei, Liu Juntao, Bian Xuming, Lian Shi, Li W |
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Investigative ophthalmology & visual science 2009 Mar 50 (3): 1058-64. Grønskov Karen, Ek Jakob, Sand Annie, Scheller Rudolf, Bygum Anette, Brixen Kim, Brondum-Nielsen Karen, Rosenberg Thom |
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
The Journal of investigative dermatology 2008 Oct 128 (10): 2442-50. Hutton Saunie M, Spritz Richard |
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- Page last updated:Dec 12, 2019
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