A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
Abstract Background The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisala...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-08-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |