Associated Papers
CRISPR-induced exon skipping is dependent on premature termination codon mutations.
Sui T et al.
Genome Biology, 2018
30333044 (PubMed )
Supplement: 13059_2018_1532_MOESM3_ESM.pdf
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
Yuen WY et al.
The British Journal of Dermatology, 2011
A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa.
Kouno M et al.
Clinical and Experimental Dermatology, 2011
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Novel premature termination codon mutations in the laminin gamma2-chain gene (LAMC2) in Herlitz junctional epidermolysis bullosa.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
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