Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
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
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population
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DOI: 10.1002/mgg3.2365
Abstract: Rare and novel variants of HBA1/2 and HBB genes resulting in thalassemia and hemoglobin (Hb) variants have been increasingly identified. Our goal was to identify two rare Hb variants in Chinese population using third‐generation sequencing… read more here.
Keywords: generation sequencing; hemoglobin variants; variants chinese; third generation ... See more keywords
Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis
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DOI: 10.1002/mgg3.70015
Abstract: McLeod syndrome (MLS) and chorea‐acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and accurate diagnosis, but relevant… read more here.
Keywords: variants chinese; chinese patients; mcleod syndrome; chorea acanthocytosis ... 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
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study
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DOI: 10.3389/fneur.2025.1609600
Abstract: Objective To summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE). Methods Clinical data were collected from six pediatric patients with PDE treated at Linyi People’s… read more here.
Keywords: variants chinese; clinical features; dependent epilepsy; pyridoxine dependent ... See more keywords