Recent Findings in Hereditary Spherocytosis Described by Researchers from Fudan University (Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB).

Předmět:	GENETIC testing RESEARCH personnel GENETIC variation GENETIC engineering SINGLE nucleotide polymorphisms EPIGENOMICS
Zdroj:	Hematology Week; 10/3/2023, p950-950, 1p
Abstrakt:	Pathogenic variants in five erythrocyte membrane structure-related genes ANK1 (Spherocytosis, type 1; MIM#182900), SPTB (Spherocytosis, type 2; MIM#616649), SPTA1 (Spherocytosis, type 3; MIM#270970), SLC4A1 (Spherocytosis, type 4; MIM#612653) and EPB42 (Spherocytosis, type 5; MIM#612690) have been confirmed to be related to HS." Keywords: Genetic Diseases and Conditions; Genetics; Health and Medicine; Hematology; Hereditary Spherocytosis; Spherocytosis EN Genetic Diseases and Conditions Genetics Health and Medicine Hematology Hereditary Spherocytosis Spherocytosis 950 950 1 10/03/23 20231003 NES 231003 2023 OCT 6 (NewsRx) -- By a News Reporter-Staff News Editor at Hematology Week -- Investigators discuss new findings in hereditary spherocytosis. [Extracted from the article]
Databáze:	Complementary Index
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