ABCC7 p.Gly480Asp
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PMID: 25674778
[PubMed]
Baker MW et al: "Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study."
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Table 3ߒ Affected cases without the second mutation detected from the next-generation sequencing panel Case no. IRT (ng/ml) Second-tier DNA Sweat chloride (mmol/l) Clinical assessment Additional information Test 1 Test 2 1 237 F508del 134.1 Quantity not sufficient CF - 2 102 2789ߙ+ߙ5G>A 56.3 53.7 CRMS c.2909-15T>G identified by DNA sequencing 3 101 N1303K 79 75 CF No CFTR gene deletion was identified by Multiplex ligation-dependent probe amplification 4 144 F508del 100 87 CF G480D identified by DNA sequencing 5 58 F508del 55.2 55.1 CRMS - CF, cystic fibrosis; CRMS, CFTR-related metabolic syndrome; IRT, immunoreactive trypsinogen.
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ABCC7 p.Gly480Asp 25674778:78:498
status: NEW