Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. |
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Authors: | L Pulkkinen F Bullrich P Czarnecki L Weiss and J Uitto |
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Institution: | Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, USA. |
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