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Article

Glu274Lys/Gly309Arg Mutation of the Tissue‐Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with Convulsions

1 Feb 2002

Abstract excerpt

We describe a patient diagnosed with lethal perinatal hypophosphatasia with a unique clinical presentation of convulsions that responded to vitamin B6. Genomic DNA sequence analysis of the tissue-nonspecific alkaline phosphatase (TNSALP) gene revealed two missense mutations: a G-to-A transition resulting in a Glu to Lys at codon 274 (E274K), and a G-to-C transversion resulting in a Gly to Arg at codon 309...

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PMID: 11999978
DOI: 10.1023/a:1015121414782

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Related research

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Glu274Lys/Gly309Arg Mutation of the Tissue‐Nonspecific Alkaline Phosphatase Gene in Neonatal Hypophosphatasia Associated with ConvulsionsPMID 11999978Read ↗

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