X05418[Secondary Source ID] - Search Results

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1987	1
1996	1
2002	1
2025	0

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Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.

Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P. Humphries MM, et al. Hum Mutat. 1996;8(1):57-63. doi: 10.1002/(SICI)1098-1004(1996)8:1<57::AID-HUMU8>3.0.CO;2-M. Hum Mutat. 1996. PMID: 8807337

Evolution of keratin genes: different protein domains evolve by different pathways.

Klinge EM, Sylvestre YR, Freedberg IM, Blumenberg M. Klinge EM, et al. J Mol Evol. 1987;24(4):319-29. doi: 10.1007/BF02134130. J Mol Evol. 1987. PMID: 2439698

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H. Yasukawa K, et al. J Biol Chem. 2002 Jun 28;277(26):23670-4. doi: 10.1074/jbc.M200974200. Epub 2002 Apr 24. J Biol Chem. 2002. PMID: 11973334 Free article.

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