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Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

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Title: Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Authors: Shchagina O; Research Centre for Medical Genetics, Moscow 115522, Russia., Stepanova A; Research Centre for Medical Genetics, Moscow 115522, Russia., Mishakova P; Research Centre for Medical Genetics, Moscow 115522, Russia., Kadyshev V; Research Centre for Medical Genetics, Moscow 115522, Russia., Demina N; Research Centre for Medical Genetics, Moscow 115522, Russia., Bessonova L; Research Centre for Medical Genetics, Moscow 115522, Russia., Ionova S; Research Centre for Medical Genetics, Moscow 115522, Russia., Guseva D; Research Centre for Medical Genetics, Moscow 115522, Russia., Marakhonov A; Research Centre for Medical Genetics, Moscow 115522, Russia., Zinchenko R; Research Centre for Medical Genetics, Moscow 115522, Russia., Kutsev S; Research Centre for Medical Genetics, Moscow 115522, Russia., Polyakov A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Source: Biomedicines [Biomedicines] 2024 Oct 01; Vol. 12 (10). Date of Electronic Publication: 2024 Oct 01.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
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  Data: <searchLink fieldCode="AU" term="%22Shchagina+O%22">Shchagina O</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Stepanova+A%22">Stepanova A</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Mishakova+P%22">Mishakova P</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Kadyshev+V%22">Kadyshev V</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Demina+N%22">Demina N</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Bessonova+L%22">Bessonova L</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Ionova+S%22">Ionova S</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Guseva+D%22">Guseva D</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Marakhonov+A%22">Marakhonov A</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Zinchenko+R%22">Zinchenko R</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+S%22">Kutsev S</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+A%22">Polyakov A</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101691304%22">Biomedicines</searchLink> [Biomedicines] 2024 Oct 01; Vol. 12 (10). <i>Date of Electronic Publication: </i>2024 Oct 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101691304 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2227-9059 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222279059%22">22279059 </searchLink><i>NLM ISO Abbreviation: </i>Biomedicines <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3390/biomedicines12102234
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        Text: English
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      – TitleFull: Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
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              Text: 2024 Oct 01
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