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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
by Van Damme, Tim (Author)
, Haußer-Siller, Ingrid (Author)
, Thiel, Christian (Author)
, Korenke, Christoph (Author)
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The American journal of human genetics, 100 (2017), 2, Seite 216-227
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autosomal recessive
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congenital disorder of glycosylation
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