Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]
Front Cardiovasc MedSu C, Zeng L, Lu H, Wang Z, Wei M.
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Balancing Nonsense Mutation Readthrough and Toxicity of Designer Aminoglycosides for Treatment of Genetic Diseases. [PDF]
ACS Med Chem Lett, 2023 Guchhait S +4 more
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Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]
Sci ProgCadena-Ullauri S +6 more
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Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient. [PDF]
Front Genet, 2023 Li D +6 more
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A Novel Homozygous Nonsense Mutation E135X in the Type II 3β-Hydroxysteroid Dehydrogenase Gene (3β-Hsd) of A Female Child With Salt-Losing Congenital Adrenal Hyperplasia (Cah). 32 [PDF]
, 1998 Suemi Marui +5 more
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Factor XIII Deficiency with a Novel Nonsense Mutation
Indian Journal of Hematology and Blood Transfusion, 2020 Rachna Sharma +6 more
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HeliyonObjectives: CHARGE syndrome is a congenital hereditary condition involving multiple systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism (IHH) due to the overlap of clinical manifestations.
Tian Wang +5 more
doaj
A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer. [PDF]
Mol Genet Metab Rep, 2023 Cuenca D +11 more
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Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion [PDF]
, 2000 Qi Long Lu +6 more
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