Lithuanian University of Health Sciences Research Management System (CRIS)
 
Use this url to cite publication: https://hdl.handle.net/20.500.12512/24174

Clinical and genetic characteristics of Lithuanian patients with hepatic presentation of Wilson's disease

Type of publication
Konferencijų tezės nerecenzuojamame leidinyje / Conference theses in non-peer-reviewed publication (T2)
Author(s)
AuthorAffiliation
Kupčinskas, Limas 
Gastroenterologijos klinika (U523800) 
Schmidt, Hartmut
Department of Hepatotransplanthology, University of Munster, Munster, Germany
Kučinskas, Laimutis 
Biologinių sistemų ir genetinių tyrimų institutas (U642100) 
Title
Clinical and genetic characteristics of Lithuanian patients with hepatic presentation of Wilson's disease
L. Kupcinskas, H. Schmidt, L. Kucinskas
Other Title
Kliničke i genetske karakteristike litvanskih bolesnika s hepatičnom prezentacijom Wilsonove bolesti.
Publisher (trusted)
Croatian Society of Gastroenterolog
Date Issued
Date
2009-04-03
Extent
p. 26, no. O4-4.
Is part of
5. Kongres Hrvatskog gastroenterološkog društva s međunarodnim sudjelovanjem=5th Congress of the Croatian Society of Gastroenterology with international participation : Knjiga sažetaka=Abstract book : Dubrovnik,Hrvatska/Croatia, 3.-5. Travnja 2009./April 3rd-5th 2009 / Ministarstva zdravstva i socijalne skrbi i Ministarstva znanosti, obrazovanja i športa Republike Hrvatske/Ministry of Health and Social Service and Ministry of Science, Education and Sports. Dubrovnik : Croatian Society of Gastroenterology/Hrvatsko Gastroenterološko Društvo.
Version
Originalus / Original
Series/Report no.
O Oralne prezentacje/Oral presentations.
O Oralne prezentacje/Oral presentations.
Area of Science
Field of Science
Keywords (en)
Abstract (en)

Aim of study: To investigate the prevalence of ATP7B gene mutation of patients with hepatic presentation of Wilson's disease (WD) in Lithuania. Methods: Twelve unrelated Lithuanian families, including 15 WD patients were tested. Clinical WD diagnosis was established in accordance to leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, semi-nested PCR technique was used to detect the c.3207C>A (p.H1069Q) mutation. Patients not homozygous for c.3207C>A (p.H1069Q) mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler (Biometra T3 Thermocycler, Göttingen, Germany). Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer (Applied Biosystems, Dramstadt, Germany). [...]

Type of document
type::text::conference output::conference proceedings::conference paper
Other Identifier(s)
(LSMU ALMA)990000002930107106
Coverage Spatial
Kroatija / Croatia (HR)
Language
Anglų / English (en)
URI
URI
https://hdl.handle.net/20.500.12512/24174
Affiliation(s)