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Article

A molecular approach to dominance in hypophosphatasia.

Human genetics - 1 Jul 2001

Lia-Baldini A S, Muller F, Taillandier A, Gibrat J F, Mouchard M, Robin B, Simon-Bouy B, Serre J L, Aylsworth A S, Bieth E, Delanote S, Freisinger P, Hu J C, Krohn H P, Nunes M E, Mornet E

Abstract excerpt

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity. The disease is highly variable in its clinical expression, because of various mutations in the TNSALP gene. In approximately 14% of the patients tested in our laboratory, only one TNSALP gene mutation was found, despite exhaustive sequencing of the...

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Identifiers

PMID: 11479741
DOI: 10.1007/s004390100546

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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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