Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

Hauke Schumann, Nadja Hammami-Hauasli, Leena Pulkkinen, Alain Mauviel, Wolfgang Küster, Ursula Lüthi, Jouni Uitto, Leena Bruckner–Tuderman

The American Journal of Human Genetics · 1997 · 81 citations · 31 references

DOIFull text

Open access

Concepts

References

31