التفاصيل البيبلوغرافية
| العنوان: |
ABCB4突变基因型与表型的相关性. |
| Alternate Title: |
Association between genotype and phenotype of ABCB4 gene mutation. |
| المؤلفون: |
翁宇航1, 杨永峰1 yyf1997@163.com |
| المصدر: |
Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi. Nov2021, Vol. 37 Issue 11, p2723-2727. 5p. |
| Abstract (English): |
ABCB4-related disease is the syndrome of bile secretion disorder caused by gene mutations and can cause bile duct injury, portal hypertension, and liver cirrhosis in clinical practice. With the development of genetics and gene sequencing techniques in recent years, more and more mutation sites have been identified; however, since this is a relatively complex disease, the pathogenicity and pathogenic mechanism of mutations remain unclear. Meanwhile, since this disease is rare, it is difficult to determine the pathogenicity of ABCB4 mutations based on basic research or clinical data. Therefore, it is urgent to establish the association between ABCB4 genotypes and phenotypes and construct a complete system in basic research and clinical practice. [ABSTRACT FROM AUTHOR] |
| Abstract (Chinese): |
ABCB4 - 相关疾病是由于基因突变引起胆汁分泌障碍的综合征, 在临床上可以导致胆管损伤、门静脉高压和肝硬化等。近年来随着遗传学和基因测序技术的发展, 越来越多的突变位点被人们所发现, 然而考虑到该病较为复杂, 突变的致病性和致病机制目前尚不明确；而且该病为罕见病, 仅通过基础研究或临床资料单方面往往难以确定ABCB4突变致病性, 因此亟需建立起ABCB4基因型与表型之间的相关性, 在基础研究与临床实践中构建完善体系 [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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