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Springer Nature1
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Molecular Biology Reports1
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20241
Lothar Seefried results 1 · Newest (Page 1/1, per page 25)
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Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variantsNARA Subscribed
Molecular Biology Reports · 2024 · Vol. 51 · Issue 1 · Springer
Lothar Seefried; Anna Petryk; Guillermo del Angel; Felix Reder; Peter Bauer
Background Hypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with HPP who previously tested negative by standard methods for ALPL variants. The secondary objective was to search for genes beyond ALPL that may reduce ALP activity or...
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