Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1. [PDF]
Mol Ther Nucleic Acids, 2023 Osum SH +12 more
europepmc +1 more source
A case of complete adenylate kinase deficiency due to a nonsense mutation in AK‐1 gene (Arg 107 → Stop, CGA → TGA) associated with chronic haemolytic anaemia [PDF]
, 1999 Paola Bianchi +6 more
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A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family. [PDF]
Genet Res (Camb), 2023 Ali G +14 more
europepmc +1 more source
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family [PDF]
, 1999 Shin‐ichi Usami +5 more
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A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations. [PDF]
Thromb JChen W, Hu J.
europepmc +1 more source
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1. [PDF]
An Bras Dermatol, 2023 Hajra B +6 more
europepmc +1 more source
Combinatorial biosynthesis of novel gentamicin derivatives with nonsense mutation readthrough activity and low cytotoxicity. [PDF]
Front PharmacolYang L +5 more
europepmc +1 more source
Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation. [PDF]
Front Oncol, 2023 Liu Z, Guo K, Hu X, Zhang X.
europepmc +1 more source
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz Junctional Epidermolysis Bullosa, and their Application for Prenatal Testing [PDF]
, 1998 Yasuko Takizawa +6 more
openalex +1 more source