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| 1 | High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease显示文摘AIM: To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson's disease (WD) in Lithuania. METHODS: Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted fromwhole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction (PCR) technique was used to detect the c.3207C>A (p.H1069Q) mutation. Patients not homozygous for the 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, G?ttingen, Germany). Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer (Applied Biosystems, Darmstadt, Germany). RESULTS: Total of 13 WD patients (mean age 26.4 years; range 17-40; male/female 3/10) presented with hepatic disorders and 16 their first degree relatives (including 12 siblings) were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders (hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2). Liver biopsy specimens were available in all of 13 WD patients (8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-liver steatosis). Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder (Leipzig score 6), no mutations were found. Out of 16 first degree WD relatives, 11 (68.7%) were heterozygous for the c.3207C>A (p.H1069Q) mutation. Two patients with fulminant WD died from acute liver failure and 11 are in full remission under penicillamine or zinc acetate treatment. Three women with WD successfully delivered healthy babies. CONCLUSION: The c.3207C>A (p.H1069Q) missense mutation is the most characteristic mutation for Lithuanian patients with WD. Even 92.3% of WD patients with hepatic presentation of the disease are homozygous or compound heterozygotes for the p.H1069Q mutation. | Laimutis Kucinskas Jolanta Jeroch Astra Vitkauskiene Raimundas Sakalauskas Vitalija Petrenkiene Vaidutis Kucinskas Rima Naginiene Hartmut Schmidt Limas Kupcinskas | 2008 | World Journal of Gastroenterology2008，14，38： | 5 |
| 2 | Virtual Heterogeneity of Phases显示文摘 | Vitalii Malyshev Astra Turdukozhaeva | 2012 | 材料科学与工程(中英文A版)2012，2，5： | 2 |
| 3 | Factors affecting prognosis with penetrating wounds of the heart显示文摘 | Tyburski JG Astra L Wilson RF | 2000 | J Trauma2000，48，： | 1 |
| 4 | Real-time cloud rendering显示文摘 | Harrise M J L astra A | 2001 | Computer Graphics Forum2001，20，3： | 1 |
| 5 | Glucose intoler- ance during adjuvant chemotherapy for breast cancer 显示文摘 | Hicksh T Astras G Thomas P | 2008 | J Natl Cancer Inst2008，100，8： | 1 |
| 6 | Glucose intolerance during adjuvant chemotherapy for breast cancer 显示文摘 | Hickish T Astras G Thomas P | 2009 | J Nat Cancer Institute2009，101，7： | 1 |
| 7 | Factorsaf fecting prognosis with penetrating wounds of the heart显示文摘 | Tyburski JG Astra L Wilsin RF | 2009 | J Trauma2009，48，4： | 1 |
| 8 | The role of self--esteem in affilia- tion显示文摘 | ASTRA RL SING S | 2000 | Journal of Psychology Interdioiplinaiy2000，134，1： | 1 |
| 9 | Oncolytic EGF receptor tyrosine kina- seinhibitor Iressa^TM 显示文摘 | Astra Zeneca plc (GB) | 2002 | Drugs Future2002，27，4： | 1 |
| 10 | Glucose intolerance during adjuvant chemotherapy for breast cancer显示文摘 | Hickish T Astras G Thomas P | 2009 | J Natl Cancer Inst2009，101，7： | 1 |
| 11 | The role of self-esteem in affiliation显示文摘 | Astra RL Singg S | 2000 | J Psychol2000，134，1： | 1 |
| 12 | Glucose intolerance during adjuvant chemotherapy for breast cancer显示文摘 | Hickish T Astras G Thomas P | 2009 | J Natl Cancer Inst2009，101，7： | 1 |
| 13 | Phase II Study of Pemetrexed in Patients Pretreated with an Anthracycline, a Taxane, and Capecitabine for Advanced Breast Cancer显示文摘 | Joyce A. O’Shaughnessy Romnee S. Clark Joanne L. Blum Robert G. Mennel David Snyder Zhishen Ye Astra M. Liepa Allen S. Melemed Denise A. Yardley | 2005 | Clinical Breast Cancer2005，，2： | 1 |
| 14 | Mycoplasma pneumoniae and Legionella pneumophila in community-acquired lower respiratory tract infections among hospitalized children: diagnosis by real time PCR显示文摘 | Maltezou HC La-Scola B Astra H | 2004 | Scand J Infect Dis 12004，36，9： | 1 |
| 15 | Economic burden of advanced hepatocellular carcinoma (HCC) in Spain among patients discontinuing first - line sorafenib 显示文摘 | ASTRA ML SEAN DC YULIA D | 2014 | ASCO2014，32，： | 1 |
| 16 | Mycoplasma pneumoniae and legionella pneumophila in community-acquired lower respiratory tract infections among hospitalized children:Diagnosis by real time PCR显示文摘 | Maltezou HC La-Scola B Astra H | 2004 | Scand J Infect Dis2004，36，9： | 1 |
| 17 | The role of self esteem in affiliation 显示文摘 | Astra R L Sing S | 2000 | Psycho2000，134，1： | 1 |
| 18 | Doxorubicin-induced canine CHF:advantages and disadvantages 显示文摘 | Astra LI Hammond R Tarakji K Stephenson LW | 2003 | J Card Surg2003，18，： | 1 |
| 19 | Factors affecting prognosis with penetrating wounds of the heart 显示文摘 | Tyburski J G Astra L Wilson R F | 2000 | Trauma2000，48，4： | 1 |
| 20 | Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population显示文摘 | Laimutis Kucinskas Simonas Juzenas Jurgita Sventoraityte Ruta Cedaviciute Astra Vitkauskiene Vytenis Kalibatas Jurate Kondrackiene Limas Kupcinskas | 2012 | Annals of Hematology2012，，4： | 1 |
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