Our studies expand the GGCX mutation landscape in patients with PXE-like phenotypes.doi:10.1111/bjd.19576John Wiley & Sons, LtdBritish Journal of Dermatology
Mutation analysis identified two heterozygous GGCX mutations, c.200_201delTT in exon 2 and c.763G>A, p.V255M in exon 7. The GGCX gene encodes a γ-glutamyl carboxylase necessary for activation of blood coagulation factors in the liver. The p.V255M mutation was previously reported to ...
As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least oneGGCXmutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a frequent...
摘要: Anatomical defects in patients with VKCFD1 are commonType and severity of symptoms can not be predicted by the specific mutationAccurate diagnosis of VKCFD1 is made at a relatively advanced age关键词:GGCX Mutation Osteocalcin MGP Bone ...
As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a ...
Results of this haplotype analysis (Fig. 2) provide evidence that a founder effect is respon- sible for the missense mutation R485P in both patients. The localization within the GGCX protein of the previously reported mutations (W501S by Spronk et al. and L394R by Brenner et al.) and ...
The phenotype may result either from a mutation within the 纬-glutamyl carboxylase (GGCX) gene or a mutation affecting the vitamin K-epoxide reductase (VKOR) complex. So far, only two different mutations identified in the GGCX gene of two VKCFD patients (Leu394Arg and Trp501Ser) could be...
PXE shows considerable phenotypic heterogeneity in the onset, course, and expression of the disease, even between patients sharing the same mutation.Hovnanian AJournal of molecular medicine: Official organ of the "Gesellschaft Deutscher Naturforscher und Arzte."...
As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a ...