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      <comment>Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA, United States            
            Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary            
            Department of Biochemistry, Semmelweis University, Budapest, Hungary            
            MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary            
            1st Department of Pediatrics, Semmelweis University, Budapest, Hungary            
            PXE Consultation Center, MAGEC Nord Reference Center for Rare Skin Diseases, Angers University Hospital, Angers, France            
            Department of Programming Languages and Compilers, Eötvös Loránd University, Budapest, Hungary            
            Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium            
            PXE International, Washington, DC, United States            
            Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy            
            Interuniversity Consortium for Biotechnologies (CIB), Trieste, Italy            
            Department of Molecular Biology, Semmelweis University, Budapest, Hungary            
            Export Date: 23 January 2023            
            CODEN: HUMUE            
            Correspondence Address: Aranyi, T.; Department of Molecular Biology, Hungary; email: aranyi.tamas@ttk.hu</comment>
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target=&quot;_blank&quot;&gt;Kaposi, Ambrus&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Verschuere, Shana &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Molnar, Beatrix &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Li, Qiaoli &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Terry, Sharon F. &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Boraldi, Federica &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Uitto, Jouni &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; et al. &lt;/div &gt;&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;33205880&quot; mtid=&quot;33205880&quot; target=&quot;_blank&quot;&gt;The pathogenic c.1171A&gt;G (p.Arg391Gly) and c.2359G&gt;A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals&lt;/a&gt;&lt;/div&gt; &lt;div class=&quot;pub-info&quot;&gt; &lt;span class=&quot;journal-title&quot;&gt;HUMAN MUTATION&lt;/span&gt; &lt;span class=&quot;journal-volume&quot;&gt;43&lt;/span&gt; : &lt;span class=&quot;journal-issue&quot;&gt;12&lt;/span&gt; &lt;span class=&quot;page&quot;&gt; pp. 1872-1881. , 10 p. &lt;/span&gt; &lt;span class=&quot;year&quot;&gt;(2022)&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;pub-end&quot;&gt;&lt;div class=&quot;identifier-list&quot;&gt; &lt;span class=&quot;identifiers&quot;&gt; &lt;span class=&quot;id identifier oa_GOLD&quot; title=&quot; Gold &quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;10.1002/humu.24498&quot; target=&quot;_blank&quot; href=&quot;https://doi.org/10.1002/humu.24498&quot;&gt; DOI &lt;/a&gt; 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            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Biológiai tudományok&lt;/span&gt;)
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Természettudományi Kutatóközpont&quot;&gt;TTK&lt;/span&gt;/Enzimológiai Intézet; &lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Intézet&quot;&gt;I&lt;/span&gt;/&lt;span title=&quot;Biokémiai és Molekuláris Biológiai Intézet&quot;&gt;BMBI&lt;/span&gt;/Biokémiai Tanszék&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10052057&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10052057&quot; target=&quot;_blank&quot;&gt;Miko Agnes
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							&lt;span class=&quot;author-name&quot; mtid=&quot;10020824&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10020824&quot; target=&quot;_blank&quot;&gt;Tory Kalman
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            &lt;span class=&quot;authorAux-mtmt&quot;&gt; gyermekgyógyászat, molekuláris biológia&lt;/span&gt;)
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																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10012617&quot; target=&quot;_blank&quot;&gt;Aranyi Tamas ✉
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            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Génexpresszió szabályozás&lt;/span&gt;)
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&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;33205880&quot; target=&quot;_blank&quot;&gt;The pathogenic c.1171A&gt;G (p.Arg391Gly) and c.2359G&gt;A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals&lt;/a&gt;&lt;/div&gt;    &lt;div&gt;		&lt;span class=&quot;journal-title&quot;&gt;HUMAN MUTATION&lt;/span&gt;

        &lt;span class=&quot;journal-issn&quot;&gt;(&lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/1059-7794&quot;&gt;1059-7794&lt;/a&gt; &lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/1098-1004&quot;&gt;1098-1004&lt;/a&gt;)&lt;/span&gt;:
		&lt;span class=&quot;journal-volume&quot;&gt;43&lt;/span&gt; &lt;span class=&quot;journal-issue&quot;&gt;12&lt;/span&gt;
&lt;span class=&quot;page&quot;&gt;
	pp 1872-1881
			
&lt;/span&gt;		 &lt;span class=&quot;year&quot;&gt;(2022)&lt;/span&gt;  
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	&lt;span class=&quot;language&quot; xmlns=&quot;http://www.w3.org/1999/html&quot;&gt;Nyelv:
			Angol
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				&lt;div class=&quot;journal-subject&quot;&gt;Folyóirat szakterülete: Scopus - Genetics&amp;nbsp;&amp;nbsp;&amp;nbsp;SJR indikátor:&amp;nbsp;Q1&lt;/div&gt;
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Forrás	 Idéző
	
	
    | &lt;span class=&quot;type-subtype&quot;&gt;Folyóiratcikk
			( Szakcikk
			
			)
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      		| &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt;
	| &lt;span class=&quot;publication-sourceOfData&quot;&gt;kézi felvitel&lt;/span&gt;
&lt;/div&gt;

&lt;div class=&quot;funder&quot;&gt; (FK131946) Támogató: Nemzeti Kutatási, Fejlesztési és Innovációs Hivatal,    (BO/00730/19/8) Támogató: MTA Bolyai pályázat,    (ÚNKP-2021) Támogató: NKFIH,    (ÚNKP-2022),    (LP2015-11/2015),    (NKFIA/OTKA KH125566),    (NKFIA/OTKA K135798),    (K_132695)   &lt;/div&gt;
&lt;div class=&quot;lastModified&quot;&gt;Utolsó módosítás: 2023.01.18. 16:40 Szabó Tibor (ELTE IK admin 5)
&lt;/div&gt;


        &lt;div class=&quot;lockedBy&quot;&gt;Központi kezelésű 2025.02.19. 17:12  Wolf György (MTMT Központi admin)
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	&lt;pre class=&quot;comment&quot; style=&quot;margin-top: 0; margin-bottom: 0;&quot;&gt;&lt;u&gt;Megjegyzés&lt;/u&gt;: Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA, United States            
            Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary            
            Department of Biochemistry, Semmelweis Univer...&lt;/pre&gt;

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