Article
Correlations of genotype and phenotype in hypophosphatasia.
Human molecular genetics - 1 Jun 1999
Zurutuza L, Muller F, Gibrat J F, Taillandier A, Simon-Bouy B, Serre J L, Mornet E
Abstract excerpt
Hypophosphatasia, a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical expression. The disease is due to various mutations in the tissue-non-specific alkaline phosphatase ( TNSALP ) gene. We report here the use of clinical data, site-directed mutagenesis and computer-assisted modelling to propose a classification of 32 TNSALP gene mutations found in 23...
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