Use this url to cite publication: https://cris.mruni.eu/cris/handle/007/34132
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The importance of MTHFR gene mutation detection in patient with recurrent miscarriages
Type of publication
Straipsnis Web of Science ir Scopus duomenų bazėje / Article in Web of Science and Scopus database (S1)
Author(s)
Daugėlaitė, Klaudija | Lietuvos sveikatos mokslų universitetas |
Lietuvos sveikatos mokslų universitetas |
Title
The importance of MTHFR gene mutation detection in patient with recurrent miscarriages
Other Title
Znacaj detekcije mutanta gena MTHFR kod pacijenata sa ponavljućim pobacajima
Publisher (trusted)
Serbian Genetic Society |
Date Issued
2015
Extent
p. 609-616
Is part of
Genetika. Belgrade : Serbian Genetic Society, 2015, vol. 47, no. 2.
Field of Science
Abstract
Homocysteine is an enzyme encoded by MTHFR (methylenetetrahydrofolate reductase) gene located on chromosome 1. Mutations in MTHFR gene may result in the afflicted metabolism of homocysteine and thus might increase the risk of recurrent miscarriages. In some cases, recurrent pregnancy loss could be prevented by prescribing folic acid and B group vitamin supplements. The demand of MTHFR gene sequencing for variations is commonly overlooked by doctors or genetic counsellors. To highlight this problem we present a case study of recurrent miscarriages in a patient with a homozygous c. 655C>T variation in MTHFR gene. Moreover, we discuss the need of molecular genetic testing for MTHFR gene variations in patients with recurrent miscarriages and the treatment of hyperhomocysteinemia.
Is Referenced by
Type of document
type::text::journal::journal article::research article
ISSN (of the container)
0534-0012
WOS
000363055800021
SCOPUS
2-s2.0-84945974752
eLABa
11704609
Coverage Spatial
Serbija / Serbia (RS)
Language
Anglų / English (en)
Bibliographic Details
17
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Genetika-Belgrade | 0.308 | 2.923 | 1.742 | 4.104 | 2 | 0.109 | 2015 | Q4 |
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Genetika-Belgrade | 0.308 | 2.923 | 1.742 | 4.104 | 2 | 0.109 | 2015 | Q4 |
Journal | Cite Score | SNIP | SJR | Year | Quartile |
---|---|---|---|---|---|
Genetika | 0.6 | 0.472 | 0.183 | 2015 | Q4 |