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Volumn 10, Issue 10, 2002, Pages 666-668

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

Author keywords

Founder effect; Hypophosphatasia; Population genetics

Indexed keywords

ALKALINE PHOSPHATASE;

EID: 0036801219     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200857     Document Type: Article
Times cited : (30)

References (9)
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    • Hypophosphatasia: Identification of five novel mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissues-nonspecific alkaline phosphatase gene among Japanese patients
    • Goseki-Sone M, Orimo H, Iimura T et al: Hypophosphatasia: identification of five novel mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissues-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mut 1998; 1(Suppl): S263-S267.
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    • Orimo H, Goseki-Sone M, Inoue M, Tsubakio Y, Sakiyama T, Shimada T: Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. J Bone Miner Metab 2002; 20: 28-33.
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  • 7
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    • Different mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia
    • Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP: Different mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 1992; 89: 9924-9928.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 9924-9928
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    • Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
    • Mornet E, Taillandier A, Peyramaure S et al: Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 1998; 6: 308-314.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.