Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family
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概要
- 論文の詳細を見る
- 2012-05-01
著者
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QAMAR Raheel
Department of Biosciences, COMSATS Institute of Information Technology
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BAUER Johann
Laboratory for Molecular Therapy, EB House, University Clinic of Dermatology
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KLAUSEGGER Alfred
Laboratory for Molecular Therapy, EB House, University Clinic of Dermatology
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SHAIQ Pakeeza
Department of Biochemistry, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi
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AZAM Maleeha
Department of Biosciences, COMSATS Institute of Information Technology
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RAJA Ghazala
Department of Biochemistry, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi