Associated Papers
Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Hong SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
35690907 (PubMed )
Supplement: mmc2.xlsx › Sheet1
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007
Molecular and diagnostic aspects of genetic skin fragility.
Has C et al.
Journal of Dermatological Science, 2006
Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
Titeux M et al.
Human Mutation, 2006
Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.
Wessagowit V et al.
Journal of Dermatological Science, 2005
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Wessagowit V et al.
The Journal of Investigative Dermatology, 2005
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