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Article

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2001

Orimo H, Girschick H J, Goseki-Sone M, Ito M, Oda K, Shimada T

Abstract excerpt

The tissue-nonspecific alkaline phosphatase (TNSALP) gene from five German family members with childhood-type hypophosphatasia (HOPS) was analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-direct sequencing method. Four novel missense mutations (T51M, R54S, L258P, and R374H) and two that had been described previously (A160T and R206W) were detected in the respective...

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Identifiers

PMID: 11760847
DOI: 10.1359/jbmr.2001.16.12.2313

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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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