Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
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J. Uitto | J. McGrath | J. Ortonne | A. Christiano | L. Pulkkinen | C. Blanchet‐Bardon | G. Meneguzzi | Y. Xu
[1] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[2] H. Shimizu,et al. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. , 1997, The Journal of investigative dermatology.
[3] J. Uitto,et al. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. , 1997, Human molecular genetics.
[4] J. Uitto,et al. MUTATION‐BASED PRENATAL DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA , 1997, Prenatal diagnosis.
[5] V. Box. The Molecular Mechanics of Quantized Valence Bonds , 1997 .
[6] J. Uitto,et al. Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa , 1997, Molecular medicine.
[7] R. Burgeson,et al. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa , 1997, Archives of Dermatological Research.
[8] W. McLean,et al. Human keratin diseases: , 1996, Experimental dermatology.
[9] J. Uitto,et al. Plectin and human genetic disorders of the skin and muscle , 1996, Experimental dermatology.
[10] J. Ortonne,et al. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. , 1996, The Journal of clinical investigation.
[11] R. Burgeson,et al. LAD-1, the linear IgA bullous dermatosis autoantigen, is a novel 120-kDa anchoring filament protein synthesized by epidermal cells. , 1996, The Journal of investigative dermatology.
[12] J. Uitto,et al. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. , 1996, Human molecular genetics.
[13] J. Uitto,et al. Molecular complexity of the cutaneous basement membrane zone , 1996, Experimental dermatology.
[14] J. Uitto,et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia , 1995, Nature Genetics.
[15] J. R. McMillan,et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. , 1995, Human molecular genetics.
[16] S. Peltz,et al. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. , 1995, Genes & development.
[17] R. Burgeson,et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. , 1994, Genomics.
[18] J. Uitto,et al. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. , 1994, The Journal of investigative dermatology.
[19] J. Uitto,et al. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. , 1994, American journal of human genetics.
[20] R. Burgeson,et al. The complete primary structure for a novel laminin chain, the laminin B1k chain. , 1994, The Journal of biological chemistry.
[21] J. Sanes,et al. A new nomenclature for the laminins. , 1994, Matrix biology : journal of the International Society for Matrix Biology.
[22] D J Prockop,et al. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[23] J. Uitto,et al. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. , 1992, The Journal of clinical investigation.
[24] E. Puffenberger,et al. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. , 1992, The Journal of clinical investigation.
[25] M. Vidaud,et al. The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. , 1990, Blood.
[26] L. Chasin,et al. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing , 1989, Molecular and cellular biology.
[27] J. Uitto,et al. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3) , 1995, Human mutation.
[28] R. Burgeson,et al. Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa , 1995 .
[29] E. Bauer,et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. , 1991, Journal of the American Academy of Dermatology.
[30] J. Ortonne,et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. , 1991, Laboratory investigation; a journal of technical methods and pathology.
[31] M. Ashburner. A Laboratory manual , 1989 .
[32] R. Eady,et al. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. , 1986, The Journal of investigative dermatology.