ABCC6 p.Thr1130Asn

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PMID: 15086584 [PubMed] Uitto J et al: "Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface?"
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36 This constellation was first suggestive of autosomal dominant inheritance, however, molecular analysis found that the affected siblings were compound heterozygotes for two different combinations of mutations in ABCC6, both of them having one mutation (D1238H) possibly inherited from the clinically unaffected father, while the accompanying mutations in trans (T1130N and 180- 1120del, respectively) were thought to be inherited from the affected mother.
ABCC6 p.Thr1130Asn 15086584:36:361
status: NEW
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