Title : Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.

Pub. Date : 2003 Dec

PMID : 14643524






1 Functional Relationships(s)
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1 Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. Glycine collagen type VII alpha 1 chain Homo sapiens