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Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Proc Natl Acad Sci U S A. 1992 Oct 15;89(20):9924-8. doi: 10.1073/pnas.89.20.9924.
Proc Natl Acad Sci U S A. 1992.
PMID: 1409720
Free PMC article.
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.
Hérasse M, Spentchian M, Taillandier A, Mornet E.
Hérasse M, et al.
Eur J Hum Genet. 2002 Oct;10(10):666-8. doi: 10.1038/sj.ejhg.5200857.
Eur J Hum Genet. 2002.
PMID: 12357339
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