Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.1999.560409.x/fullpdf
Reference21 articles.
1. A homoallelic Gly317→Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites;Greenberg;Genomics,1993
2. Hypophosphatasia;Fraser;Am J Med,1957
3. Lethal and mild hypophosphatasia in half-sibs;Eastman;J Craniofac Genet Dev Biol,1982
4. Serum alkaline phosphatase, serum pyrophosphatase, phosphoethanolamine and inorganic pyrophosphate in plasma and urine: a genetic and clinical study of hypophosphatasia;Sorensen;Monogr Hum Genet,1978
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2. Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study;Journal of Human Genetics;2019-12-20
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4. Hypophosphatasia;Atlas of Genetic Diagnosis and Counseling;2017
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