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Article

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.

Journal of bone and mineral metabolism - 1 Jan 2012

Chang Kai-Chi, Lin Po-Han, Su Yi-Ning, Peng Steven Shinn-Forng, Lee Ni-Chung, Chou Hung-Chieh, Chen Chien-Yi, Hsieh Wu-Shiun, Tsao Po-Nien

Abstract excerpt

Hypophosphatasia is a rare inherited disorder characterized by poor bone mineralization and deficiency of alkaline phosphatase activity. It is caused by mutations in the liver/bone/kidney alkaline phosphatase gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNAP), which displays many allelic heterogeneities, leading to different clinical phenotypes. This study reports the case of a patient...

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PMID: 21638016
DOI: 10.1007/s00774-011-0282-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.PMID 21638016Read ↗

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Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.Semantic proximity Read ↗

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.Semantic proximity Read ↗

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