Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg20116.pdf
Reference14 articles.
1. Whyte, M. P. Physiological role of alkaline phosphatase explored in hypophosphatasia. Prolonged survival and phenotypic correction of Akp2(−/−) hypophosphatasia mice by lentiviral gene therapy. Ann. N. Y. Acad. Sci. 1192, 190–200 (2010).
2. Mornet, E. Hypophosphatasia. Orphanet. J. Rare. Dis. 2, 40 (2007).
3. Nakamura-Utsunomiya, A., Okada, S., Hara, K ., Miyagawa, S., Takeda, K., Fukuhara, R. et al. Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. Clin. Pediatr. Endocrinol. 19, 7–13 (2010).
4. Stevenson, D. A., Carey, J. C., Coburn, S. P., Ericson, K. L., Byrne, J. L., Mumm, S. et al. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J. Clin. Endocrinol. Metab. 93, 3443–3448 (2008).
5. Michigami, T., Uchihashi, T., Suzuki, A., Tachikawa, K., Nakajima, S. & Ozono, K. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur. J. Pediatr. 164, 277–282 (2005).
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