Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Hypophosphatasia is a heritable form of rickets/osteomalacia with extremely variable clinical expression. Severe forms are inherited in an autosomal recessive fashion; the mode of transmission of mild forms is uncertain. The biochemical hallmark of hypophosphatasia is deficient activity of the tissu...
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| Publié dans: | Proc Natl Acad Sci U S A |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
1992
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC50246/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1409720/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.20.9924 |
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