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Article

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.

Molecular biology reports - 14 Sept 2024

Seefried Lothar, Petryk Anna, Del Angel Guillermo, Reder Felix, Bauer Peter

Abstract excerpt

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...

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Alkaline Phosphatase
Genetic Variation
Hypophosphatasia
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Whole Genome Sequencing

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PMID: 39276275
DOI: 10.1007/s11033-024-09906-7
PMCID: PMC11401779

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