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Article

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

Human mutation - 1 Jan 2000

Mornet E

Abstract excerpt

Hypophosphatasia is an inborn error of metabolism caused by a deficiency of liver-, bone- or kidney-type alkaline phosphatase due to mutations in the tissue-nonspecific alkaline phosphatase (ALPL) gene. Most of the 65 distinct mutations described to date are missense mutations, a result which must be correlated with the great variability of clinical expression ranging from stillbirth without mineralized bone to...

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Source

Identifiers

PMID: 10737975
DOI: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C

Genes

ALPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.PMID 10737975Read ↗

Hypophosphatasia.Semantic proximity Read ↗

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

Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia.Semantic proximity Read ↗

Genetics of hypophosphatasia.Semantic proximity Read ↗

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.Semantic proximity Read ↗

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.Semantic proximity Read ↗

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.Semantic proximity Read ↗

[Tissue-nonspecific alkaline phosphatase and hypophosphatasia].Semantic proximity Read ↗

Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.Semantic proximity Read ↗

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.Semantic proximity Read ↗

Positive maternal serum triple test screening in severe early onset hypophosphatasia.Semantic proximity Read ↗

Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.Semantic proximity Read ↗

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