Associated Papers
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Watanabe H et al.
Oral Diseases, 2001
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients.
Goseki-Sone M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1998
Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras.
Cai G et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
Goseki-Sone M et al.
Human Mutation, 1998
Genetic analysis of hypophosphatasia.
Sato S et al.
Acta Paediatrica Japonica : Overseas Edition, 1997
The bg allele mutation is due to a LINE1 element retrotransposition.
Perou CM et al.
Genomics, 1997
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