Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex11Part of this paper was presented at the 2nd Scientific Meeting of the Dutch Society for Experimental Dermatology, Lunteren, the Netherlands, February 8, 2001 and on the 30th Annual Meeting of the European Society for Dermatological Research, Berlin, September 22, 2000.-Reference-Cited by-同舟云学术

Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex11Part of this paper was presented at the 2nd Scientific Meeting of the Dutch Society for Experimental Dermatology, Lunteren, the Netherlands, February 8, 2001 and on the 30th Annual Meeting of the European Society for Dermatological Research, Berlin, September 22, 2000.

Published:2002-04 Issue:4 Volume:118 Page:626-630
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Schuilenga-Hut Petra H.L.,Scheffer Hans,Buys Charles H.C.M.,Pas Hendri H.,Nijenhuis Miranda,Jonkman Marcel F.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference12 articles.

1. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation;Darling;J Clin Invest,1999

2. Exempting homologous pseudogene sequences from PCR amplification allows genomic keratin 14 hotspot mutation analysis;Hut;J Invest Dermatol,2000

3. Revertant mosaicism in human genetic disorders;Jonkman;Am J Med Genet,1999

4. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex;Jonkman;J Invest Dermatol,1996

5. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion;Jonkman;Cell,1997

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