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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2020-03-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/hypophosphatasia-a-novel-mutation-associated-with-/26302
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