Title : Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.

Pub. Date : 2000 Oct

PMID : 11142768






2 Functional Relationships(s)
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Protein Name
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1 Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Glycine collagen type VII alpha 1 chain Homo sapiens
2 Interestingly, we found that both cases were caused by a missense glycine substitution mutation by different amino acids in the same codon of COL7A1 (G2028R and G2028A). Glycine collagen type VII alpha 1 chain Homo sapiens