The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
- 1 March 1996
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 106 (3), 544-548
- https://doi.org/10.1111/1523-1747.ep12343976
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- Disorders of NailsPublished by Wiley ,2004
- Mutation of a type II keratin gene (K6a) in pachyonychia congenitaNature Genetics, 1995
- Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic HyperkeratosisJournal of Investigative Dermatology, 1994
- A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisCell, 1992
- Intermediate filaments formed de novo from tail-less cytokeratins in the cytoplasm and in the nucleus.The Journal of cell biology, 1991
- Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene AbnormalitiesScience, 1991
- Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 1991
- Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.The Journal of cell biology, 1990
- The CpG dinucleotide and human genetic diseaseHuman Genetics, 1988
- The primary structure of component 8c-1, a subunit protein of intermediate filaments in wool keratin. Relationships with proteins from other intermediate filamentsBiochemical Journal, 1986