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Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
by
Uddin, Syed Ashraf
,
Cesarato, Nicole
,
Humbatova, Aytaj
,
Schmidt, Axel
,
urRehman, Fazal
,
Naeem, Muhammad
,
Tareen, Abdul Samad
,
Wolf, Sabrina
,
Panezai, Muhammad Anwar
,
Thiele, Holger
,
Wali, Abdul
,
Fölster-Holst, Regina
,
Basit, Sulman
,
Ayub, Muhammad
,
Betz, Regina C
Published in
Acta dermato-venereologica
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Journal Title
Acta Dermato-Venereologica
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Subjects
Col7A1
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Collagen - Genetics
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Collagen Type Vii - Genetics
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Epidermolysis Bullosa
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Epidermolysis Bullosa Dystrophica - Diagnosis
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Epidermolysis Bullosa Dystrophica - Genetics
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Exome Sequencing
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Genes, Recessive
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Humans
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Missense Mutation
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Mutation
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Mutation, Missense
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Rna Splicing
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Splicing
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