Title : Homozygotic patient with betaig-h3 gene mutation in granular dystrophy.

Pub. Date : 1998 May

PMID : 9603385






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 This was a substitution of G to A of the second nucleotide position of codon 124 in the betaig-h3 gene that led to a replacement of histidine for arginine (Arg124His, CGC-->CAC). Histidine carbonic anhydrase 2 Homo sapiens