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Article

Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.

Molecular genetics and metabolism - 1 Aug 2015

Numa-Kinjoh Natsuko, Komaru Keiichi, Ishida Yoko, Sohda Miwa, Oda Kimimitsu

Abstract excerpt

Hypophosphatasia (HPP) is a genetic disease characterized by defective calcification of hard tissues such as bone and teeth accompanying deficiency of serum alkaline phosphatase (ALP) activity. Its development results from various mutations in the ALPL gene encoding tissue-nonspecific ALP (TNSALP). HPP is known to be transmitted in an autosomal recessive or autosomal dominant manner. A point mutation (c.323C>T)...

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Identifiers

PMID: 25982064
DOI: 10.1016/j.ymgme.2015.05.006

Genes

ALPL

Variants

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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.

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