Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
Abstract Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsens...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
BMC,
2023-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |