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Article

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.

Clinical science (London, England : 1979) - 1 Jul 1999

Iqbal S J, Plaha D S, Linforth G H, Dalgleish R

Abstract excerpt

Hypophosphatasia is a rare disease characterized by low serum levels of tissue non-specific alkaline phosphatase (TNSALP) and a spectrum of skeletal disease varying from the severest form with death in utero to mild with no clinical abnormality in adults. Currently, the diagnosis of hypophosphatasia is made on the basis of clinical findings, radiography, low serum alkaline phosphatase levels and raised abnormal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10369796

Genes

ALPL

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.PMID 10369796Read ↗

Genetics of hypophosphatasia.Semantic proximity Read ↗

Revisiting the Genetics of HypophosphatasiaSemantic proximity Read ↗

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations.Semantic proximity Read ↗

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.Semantic proximity Read ↗

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.Semantic proximity Read ↗

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.Semantic proximity Read ↗

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.Semantic proximity Read ↗

Severe perinatal hypophosphatasia case with a novel mutation.Semantic proximity Read ↗

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.Semantic proximity Read ↗

Hypophosphatasia: dental aspects and mode of inheritanceSemantic proximity Read ↗

Hypophosphatasia: molecular diagnosis of Rathbun's original case.Semantic proximity Read ↗

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.Semantic proximity Read ↗

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