Concepedia

Expanding the COL7A1 Mutation Database: Novel and Recurrent Mutations and Unusual Genotype – Phenotype Constellations in 41 Patients with Dystrophic Epidermolysis Bullosa

Johannes S. Kern, Jürgen Kohlhase, Leena Bruckner‐Tuderman, Cristina Has

Journal of Investigative Dermatology · 2006 · 109 citations · 20 references

DOIFull text

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Concepts

References

20

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

Peter Brückner, Darwin J. Prockop · Analytical Biochemistry · 1981 · 332 citations

, , +14

Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects

William R. Wilcox · The American Journal of Human Genetics · 2003 · 185 citations · Full text

, , +16

Epidermolysis Bullosa. Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry

Clinical and Experimental Dermatology · 2000 · 152 citations

, , +10

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Alain Hovnanian, Philippe Duquesnoy, C Blanchet‐Bardon et al. · Journal of Clinical Investigation · 1992 · 141 citations · Full text

, , +15

Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry

Nanette B. Silverberg · Pediatric Dermatology · 2000 · 123 citations

, , +5