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

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

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability'. Together they form a unique fingerprint.

Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology