Associated Papers
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.
Reifenberger J et al.
The Journal of Investigative Dermatology, 2001
Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?
Klausegger A et al.
The Journal of Investigative Dermatology, 2001
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