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Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia
Hypophosphatasia (HPP) is a clinically heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene. In this report, we present a family with heterozygous parents (maternal p.(Glu191Lys), paternal p.(Gly334Asp) mutations in the ALPL gene...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4169536/ https://ncbi.nlm.nih.gov/pubmed/24569605 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.10 |
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