Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

Author:

Pfendner Ellen G.,Sadowski Sara G.,Uitto Jouni

Publisher

Wiley

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference30 articles.

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2. A keratin 14 “knock-out” mutation in recessive epidermolysis bullosa simplex resulting in less severe disease;Batta;Br J Dermatol,2000

3. Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen;Byers;Am J Hum Genet,1988

4. The human intermediate filament mutation database;Cassidy,2002

5. Recurrent bullous eruption of the feet;Cockayne;Br J Dermatol Syph,1938

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