Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation
Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP). The gene encoding TNAP (ALPL) has considerable allelic heterogeneity, which could explain different degrees of enzyme activity resulting in a...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Galenos Yayincilik,
2020-03-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |