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We found two novel missense variants in exon 26 and 29 in a compound heterozygous state in the first patient. One is a missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other is a missense mutation (c.4069C>T; p.R1357W) in exon 29.
We found two novel missense variants in exon 26 and 29 in a compound heterozygous state in the first patient. One is a missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other is a missense mutation (c.4069C>T; p.R1357W) in exon 29. These mutations have not been detected in our control panel of 200 alleles.
- Dr. Munira Borhany
Aug 28, 2023 · (c.3661C>T; p.R1221C) in exon 26 and the other was a het-erozygous missense mutation (c.4096C>T; p.R1357W) in exon 29 of the ABCC6 gene. The c.3661C>T mutation pre-dicted the creation of a novel recognition site for TspE I and the loss of a Taq I restriction site. The variant c.4096C>T in exon 29 results in the gain of a novel Mae II restriction
Dec 1, 2004 · Regarding rAbcc6 R1220, mutations of the corresponding R1221 in hABCC6 have been reported to be disease causing (R1221C) [46][47] [48] and pathogenic (R1221H) [47,49]. The corresponding amino...
In the present study, two novel missense mutations, p.R1221C and p.R1357W, were found in a young female patient who presented severe coronary stenosis.
Mar 20, 2007 · A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.
Dec 17, 2010 · This study was specifically designed to identify hotspot mutations in the ABCC6 gene in different ethnic groups, implement a stepwise mutation screening approach when the ethnicity of a patient is known, and provide a methodical and cost-effective diagnostic screening strategy.
+Identification+of+Two+Novel+Missense+Mutations+(p.R1221C+and+p+...&oid=3&h=1126&w=850&turl=https%3A%2F%2Ftse1.mm.bing.net%2Fth%3Fid%3DOIP.LwqnfgNQa8k7pAELNNuUmQHaJz%26pid%3DApi&tt=(PDF)+Identification+of+Two+Novel+Missense+Mutations+(p.R1221C+and+p+...&sigr=JoX1J3AaQiPM&sigit=lIa3QpGGuCe.&sigi=o8dEqlLq2wlD&sign=OcRCJcXSDFRR&sigt=OcRCJcXSDFRR "(PDF) Identification of Two Novel Missense Mutations (p.R1221C and p ...")
+In+the+family+of+the+...&oid=5&h=595&w=427&turl=https%3A%2F%2Ftse1.mm.bing.net%2Fth%3Fid%3DOIP.5YljGZzq-vqkdkMB_WCCvAAAAA%26pid%3DApi&tt=Pedigrees+of+two+patients+with+PXE.+(Family+1)+In+the+family+of+the+...&sigr=kkjJjcq5OumN&sigit=2RA5NEL2o33E&sigi=hwa135vQ5Eh9&sign=1ScLTmpevBHA&sigt=1ScLTmpevBHA "Pedigrees of two patients with PXE. (Family 1) In the family of the ...")
