TAZ, IVS1DS, G-C, +5 RT-PCR revealed tissue-specific expression of several TAZ variants in leukocytes, fibroblasts, heart, and skeletal muscle. High levels in cardiac and skeletal muscle. TAZ, 1-BP DEL Bione et al. Increased urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid, and ethylhydracrylic acid was found.
(1999) identified mutations in the G4.5 gene (see, e.g., 300394.0006). (1996) identified a gene that is located in the gene-rich region Xq28 where Barth syndrome (302060) maps. alopez : 07/12/2018 The TAZ gene is located on the q arm of chromosome X at position 28 and it spans 10,208 base pairs. Dear OMIM User, Genome Resources: Alliance , Gene:321965 ... NCBI BLAST. Steward et al.
Please join your colleagues by making a (2009) identified the G197R mutation in the TAZ gene. To ensure long-term funding for the OMIM project, we have diversified Ensembl.
science writers and biocurators. G4.5
(1997) screened the G4.5 gene with SSCP and direct sequencing revealed a G-A transition in exon 8, resulting in a gly197-to-arg (G197R) substitution at a highly conserved residue. Xu et al. (2001) found an unusual intronic mutation of the TAZ gene in a Japanese patient with Barth syndrome (BTHS; 302060). Steward, C. G., Newbury-Ecob, R. A., Hastings, R., Smithson, S. F., Tsai-Goodman, B., Quarrell, O. W., Kulik, W., Wanders, R., Pennock, M., Williams, M., Cresswell, J. L., Gonzalez, I. L., Brennan, P.
Marziliano, N., Mannarino, S., Nespoli, L., Diegoli, M., Pasotti, M., Malattia, C., Grasso, M., Pilotto, A., Porcu, E., Raisaro, A., Raineri, C., Dore, R., Maggio, P. P., Brega, A., Arbustini, E.
Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A., Toniolo, D.
Copyright © 1996-2020 , Weizmann Institute of Science. In 1 case the mutation was in exon 7 (300394.0004), one of the alternative exons. NCBI BLAST. TAZ, GLY240ARG
Claypool, S. M., McCaffery, J. M., Koehler, C. M. The mutation segregated with LVNC in the family and was not found in 300 unrelated females.
(1997) evaluated 14 Barth syndrome pedigrees and found mutations in the G4.5 gene in all, 5 missense mutations (see, e.g., 300394.0006), 4 splice site mutations (see, e.g., 300394.0007), 3 deletions, 1 insertion, and 1 nonsense mutation. A.
Echocardiography showed moderate cardiac enlargement with left ventricular dilation but no outflow obstruction. TAZ, ARG94SER 302060 (2007) identified a 4-bp deletion in exon 8 of the TAZ gene inherited from his unaffected mother. (2002) identified a -1G-C transversion in IVS8 of the TAZ gene. NCBI BLAST.
UCSC BLAT. Xu et al. (1996) determined that the TAZ gene contains 11 exons and that its 5-prime end maps to a CpG island.
Bleyl et al. Sessions, O. M., Barrows, N. J., Souza-Neto, J.
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