Výsledky vyhledávání - "Tuğba Karaman Mercan"

Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability

Autor: Banu Güzel Nur, Ercan Mihci, Tuğba Karaman Mercan, Abdullah Utku Senol, Ozgur Erkal, Birsen Karaman, Sibel Berker Karauzum, Ozden Altiok Clark

Publikováno v: Cytogenetic and Genome Research. 161:153-159

Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2579fce9b6ec1c08dd8919ccf0f07205
https://doi.org/10.1159/000515368

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Investigation of Alpha Globin Gene Mutations byComplementary Methods in Antalya

Autor: Yunus Arikan, Alphan Kupesiz, Ibrahim Keser, Duran Canatan, Tuğba Karaman Mercan, Turker Bilgen

Alpha (?) thalassemia is one of the hemoglobinopaties that is inherited by autosomal recessive mode. It is caused by mutations on alpha-1 and alpha-2 globin genes. Deletional type mutations of globin genes have commonly been seen in alpha thalassemia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c99c34e23f95fd2f86c2cca4649ed26
https://hdl.handle.net/11454/81361

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