title: Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.
authors.forename: Pakeeza A
authors.initials: PA
authors.lastname: Shaiq
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Maleeha
authors.initials: M
authors.lastname: Azam
authors.forename: Ghazala K
authors.initials: GK
authors.lastname: Raja
authors.forename: Raheel
authors.initials: R
authors.lastname: Qamar
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D018389:Codon, Nonsense; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010154:Pakistan; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C569053:COL7A1 protein, human; D018389:Codon, Nonsense; D024143:Collagen Type VII