Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population
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DOI: 10.1002/mgg3.1958
Abstract: Genetic testing of UGT1A1 was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population. read more here.
Keywords: variants chinese; diagnosis gilbert; genetic testing; chinese population ... See more keywords
Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
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DOI: 10.1080/13816810.2022.2092759
Abstract: Dear Editor, Alström syndrome (ALMS, OMIM 203800) is a rare autosomal recessive disease with an estimated prevalence of 1–9 per 1,000,000 worldwide (1,2). It usually involves multiple organs and tissues including the eye, ear, kidney,… read more here.
Keywords: alms1 pathogenic; pathogenic variants; variants chinese; identification alms1 ... See more keywords
Identification of COL4A4 variants in Chinese patients with familial hematuria
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DOI: 10.3389/fgene.2022.1064491
Abstract: Background: Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, COL4A3, COL4A4, or COL4A5.… read more here.
Keywords: variants chinese; familial hematuria; col4a4; col4a4 variants ... See more keywords