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A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
Department of Dermatology, San Francisco General Hospital, University of California 94110.
PMID: 7506606 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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ReviewDiseases of epidermal keratins and their linker proteins.
Uitto J, Richard G, McGrath JA.
Exp Cell Res. 2007 Jun 10; 313(10):1995-2009. Epub 2007 Apr 24.
[Exp Cell Res. 2007]
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A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP.
Br J Ophthalmol. 2004 Jun; 88(6):752-6.
[Br J Ophthalmol. 2004]
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Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, et al.
Am J Hum Genet. 1997 Dec; 61(6):1268-75.
[Am J Hum Genet. 1997]
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