Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review
BackgroundAtaxia-telangiectasia (A-T) is an autosomal recessive disorder with high clinical heterogeneity. A-T may present in complicated variable forms, including classic A-T and milder form of AT. Contrary to the classic A-T, the milder form does not present the cardinal features of A-T such as at...
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| Main Authors: | , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |