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    Glossary Frameshift Mutation

    insertion or deletion of nucleotides shifts DNA reading frame

    A frameshift mutation is a type of genetic mutation where the insertion or deletion of a number of nucleotides in DNA that is not divisible by three shifts the reading frame of the genetic code. This alteration can lead to the production of completely different proteins, often resulting in nonfunctional proteins, which can cause various genetic disorders and diseases.

    Research 10 of 331

    1. A Homozygous Frameshift Mutation in the<i>HOXC13</i>Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family Human Mutation · 2013 · 30 citations
    2. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    3. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population Neurological Sciences · 2015 · 21 citations
    4. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I International Journal of Trichology · 2013
    5. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    6. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations
    7. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    8. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    9. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    10. Gender-Difference in Hair Length as Revealed by Crispr-Based Production of Long-Haired Mice with Dysfunctional FGF5 Mutations International Journal of Molecular Sciences · 2022 · 6 citations
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