Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family
ABSTRACT Introduction Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene. Case presentation We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Wiley,
2024-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |