title: Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.forename: Shunpei
authors.initials: S
authors.lastname: Fukuda
authors.forename: Norito
authors.initials: N
authors.lastname: Ishii
authors.forename: Sachiko
authors.initials: S
authors.lastname: Sakaguchi
authors.forename: Takako
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Abe
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Yasumoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D018389:Codon, Nonsense; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006147:Guanine; D006801:Humans; D010641:Phenotype; D022821:RNA Splice Sites; D013941:Thymine
chemical_list: D018389:Codon, Nonsense; D024143:Collagen Type VII; D022821:RNA Splice Sites; D006147:Guanine; D013941:Thymine