Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Gap-PCR"'
Autor:
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and ha
Externí odkaz:
https://doaj.org/article/41e03dc6fff14af98a32c56322293656
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
Objectives: This study aimed to establish a droplet digital polymerase chain reaction (ddPCR) assay for South-East Asian (SEA) deletion based on a fully integrated digital PCR system DropXpert S6.Methods: A total of 151 whole blood samples, 10 chorio
Externí odkaz:
https://doaj.org/article/d8627c1f879445c2a7c49b6182fe5bef
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
ObjectiveThe fusion gene is a rare form of α-thalassemia. Patients carrying the fusion gene could be misdiagnosed as normal or -α4.2deletion by the conventional thalassemia detection methods. The aim of this study was to present the detection of fu
Externí odkaz:
https://doaj.org/article/d1741c8989e94746956eb6d68b90fb44
Autor:
Vu Viet Ha Vuong, Phuoc-Dung Nguyen, Nha Nguyen Thi, Phuong Le Thi, Dang Thi Minh Nguyet, Manh Ha Nguyen, Hai Anh Tran, Nhat-Minh Dang-Tran, The-Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van-Khanh Tran
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 375-380 (2024)
Objectives: α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high rate of mutation carriers, of couples consi
Externí odkaz:
https://doaj.org/article/97b2709f55004b258e4dd79714c5b636
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract Hemoglobin (Hb) Lepore is a rare deletional δβ-thalassemia caused by the fusion between delta-beta genes, and cannot be identified by traditional thaltassemia gene testing technology. The aim of this study was to conduct molecular diagnosi
Externí odkaz:
https://doaj.org/article/cdf33d28c58940f4ae9513fdd204a17c
Although sustainable change is urgently needed, more environmentally friendly alternatives are often rejected when it comes to handling and selecting products. This also applies to people with a sustainable attitude. Accordingly, the question arises
Externí odkaz:
https://tud.qucosa.de/id/qucosa%3A93981
https://tud.qucosa.de/api/qucosa%3A93981/attachment/ATT-0/
https://tud.qucosa.de/api/qucosa%3A93981/attachment/ATT-0/
Publikováno v:
Сибирский онкологический журнал, Vol 22, Iss 2, Pp 85-92 (2023)
Background. The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene has recently been reported to be associated with the pathogenesis and development of human cancers.This study aimed to assess the potential associat
Externí odkaz:
https://doaj.org/article/165bbe5ec2ce486f95ac323aeb629bd6
Autor:
YaXuan Cao, JianMing Luo
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground β-thalassemia is a common inherited hemolytic disorder caused by mutations in the HBB gene. Genetic analysis of 2 new beta-thalassemia patients with deletion mutations in the HBB gene and their family members.Methods Their clinica
Externí odkaz:
https://doaj.org/article/12e7f074013648b49cd1d2a97f14bda8
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