What is it about?
Recessive LAMB3 mutation might induce lethal form of inherited epidermolysis bullosa. The paper presents data on an unconventional intronic splice-site mutation in a closed Roma community in Hungary. The age of the mutation was estimated to be 548 ± 222 years, and it developed in the Balkan. An international collaboration helped to indentify the same mutation in German, French and Italian families who immigrated from the Balkan.
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Why is it important?
The type of this intronic mutation was considered for years as non pathogenic.
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This page is a summary of: A uniqueLAMB3splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries, British Journal of Dermatology, August 2016, Wiley,
DOI: 10.1111/bjd.14646.
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