Associated Papers
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
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
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
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
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Laminins and human disease.
McGowan KA et al.
Microscopy Research and Technique, 2000
LAMB3 gene transfection into SV40-transformed keratinocytes from patient with Herlitz junctional epidermolysis bullosa.
Masunaga T et al.
Archives of Dermatological Research, 2000
Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
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