Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese population. However, suitable assays for detec...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-05-01T00:00:00Z.
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