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Article

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

Human molecular genetics - 1 Sept 1994

Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7833929
DOI: 10.1093/hmg/3.9.1683

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Click a neighbor to travelStep 1 · 12 closest

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.PMID 7833929Read ↗

Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patientsSemantic proximity Read ↗

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with 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 ↗

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 ↗

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

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

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.Semantic proximity Read ↗

Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.Semantic proximity Read ↗

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

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.Semantic proximity Read ↗

Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.Semantic proximity Read ↗

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