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Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Amri Y, Aboulkacem S, Dabboubi R, Ayoub M, Lamine O, Othmani M, Aouni Z, Messaoud T, Mazigh C. Amri Y, et al. Ann Biol Clin (Paris). 2023 May 16;81(2):204-209. doi: 10.1684/abc.2023.1806. Ann Biol Clin (Paris). 2023. PMID: 37184254
Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics v …
Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction …
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
Caridi G, Gulec EY, Campagnoli M, Lugani F, Onal H, Kilic D, Galliano M, Minchiotti L. Caridi G, et al. Biochem Med (Zagreb). 2016;26(2):264-71. doi: 10.11613/BM.2016.031. Biochem Med (Zagreb). 2016. PMID: 27346974 Free PMC article.
The subsequent frame-shift inserts a stop codon in position 215, markedly reducing the size of the predicted protein product. The parents are both heterozygous for the same mutation, for which we propose the name Erzurum from the city of origin of the family. ...
The subsequent frame-shift inserts a stop codon in position 215, markedly reducing the size of the predicted protein product. The par …
Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families.
Galliano M, Campagnoli M, Rossi A, Wirsing von König CH, Lyon AW, Cefle K, Yildiz A, Palanduz S, Ozturk S, Minchiotti L. Galliano M, et al. Clin Chem. 2002 Jun;48(6 Pt 1):844-9. Clin Chem. 2002. PMID: 12028999
This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues. ...
This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation …