Title : A novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency.

Pub. Date : 2019 Oct 5

PMID : 31374327






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 A base substitution mutation was identified at c.1466 (c.1466G>T) of G6PD on chromosome X of the patient, which resulted in an amino acid change from arginine to leucine at p.489 (p.R489L). Leucine glucose-6-phosphate dehydrogenase Homo sapiens