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.
Hamada
Takahiro
T
Fukuda
Shunpei
S
Ishii
Norito
N
Sakaguchi
Sachiko
S
Ishikawa
Takako
T
Abe
Toshifumi
T
Yasumoto
Shinichiro
S
Hashimoto
Takashi
T
Nakano
Hajime
H
Sawamura
Daisuke
D
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
D018389:Codon, Nonsense; D024143:Collagen Type VII; D022821:RNA Splice Sites; D006147:Guanine; D013941:Thymine