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Figure 2 | BMC Neurology

Figure 2

From: 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Figure 2

Exon1(c.73delG) (A) and exon2(c.369-375delGTACCCA) (B) in a Chinese CTX patient. The patient was a compound heterozygote carrying two mutations in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA) (Figure 2). Neither deletion mutation above was reported before. As showed in Figure 3, the I1, III1 and III2 are the carriers of c.369_375delGTACCCA, while I2 and III3 are the carriers of c.73delG.

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BMC Neurology

ISSN: 1471-2377

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