Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

Author:

Al-Shamsi Aisha M.,Ben-Salem Salma,Hertecant Jozef,Al-Jasmi Fatma

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference25 articles.

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2. Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT (2011) Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. J Pediatr Gastroenterol Nutr 52(1):113–116. doi: 10.1097/MPG.0b013e3181f50388

3. Banki K, Halladay D, Perl A (1994) Cloning and expression of the human gene for transaldolase. A novel highly repetitive element constitutes an integral part of the coding sequence. J Biol Chem 269(4):2847–2851

4. Crooks GE, Hon G, Chandonia JM, Brenner SE (2004) WebLogo: a sequence logo generator. Genome Res 14(6):1188–1190. doi: 10.1101/gr.849004

5. Cutting GR (2010) Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci 1214:57–69. doi: 10.1111/j.1749-6632.2010.05879.x

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