Application | Comment | Organism |
---|---|---|
medicine | characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia. The deletion eliminates all GALT exons as well as the non-translated sequences of the adjacent interleukin 11 receptor IL11RA gene. It is flanked by a 6 bp block of homologous sequence on either side. Patients homozygous for the deletion show a lack of IL11RA transcripts | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | characterization of a large deletion spanning 8489 bp in the GALT gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P07902 | - |
- |