Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypo...
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers
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London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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Contents
Hypophosphatasia (HPP) is an inherited disorder caused by mutations in
ALPL
that encodes an isozyme of alkaline phosphatase (ALP), TNSALP. One of the most frequent
ALPL
mutations is c.1559delT, which causes the most severe HPP, the perinatal (lethal) form (pl-HPP). c.1559delT has been found only in Japanese and its prevalence is suspect...
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Full title
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers
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TN_cdi_proquest_miscellaneous_853995875
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_853995875
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2010.161
