Title : An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.

Pub. Date : 2012 Jun

PMID : 22492876






2 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 A trinucleotide deletion in SLC2A1, coding for the deletion of isoleucine 435 or 436 in GLUT1, was identified in the proband. Isoleucine solute carrier family 2 member 1 Homo sapiens
2 A trinucleotide deletion in SLC2A1, coding for the deletion of isoleucine 435 or 436 in GLUT1, was identified in the proband. Isoleucine solute carrier family 2 member 1 Homo sapiens