A uniqueLAMB3splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries-Reference-Cited by-同舟云学术

A uniqueLAMB3splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries

Author:

Mayer B.¹,Silló P.¹,Mazán M.¹,Pintér D.¹,Medvecz M.¹,Has C.²,Castiglia D.³,Petit F.⁴,Charlesworth A.⁵,Hatvani Zs.¹,Pamjav H.⁶,Kárpáti S.¹

Affiliation:

1. Department of Dermatology, Venereology and Dermatooncology; Faculty of Medicine; Semmelweis University; Mária u. 41 1085 Budapest Hungary

2. Department of Dermatology; Medical Center; University of Freiburg; Freiburg Germany

3. Laboratory of Molecular and Cell Biology; Istituto Dermopatico dell'Immacolata; IDI-IRCCS; Rome Italy

4. Clinical Genetics Department; Jeanne de Flandre Hospital; Lille France

5. French Centre for Hereditary Epidermolysis Bullosa; Archet 2 Hospital; Nice France

6. Institute of Forensic Medicine; Network of Forensic Science Institutes; Ministry of Justice; Budapest Hungary

Funder

Dystrophic Epidermolysis Bullosa Research Association

Semmelweis Egyetem

Faculty of Medicine Dean's Grant

Országos Tudományos Kutatási Alapprogramok

Publisher

Wiley

Subject

Dermatology

Link

Reference29 articles.

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