A Splice Site Mutation in the Human Type I Hair Keratin Gene hHa1 Results in the Expression of a Tailless Keratin Isoform
December 1997
in “
Journal of Biological Chemistry
”
Studysummary This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
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