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Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa

Yasuko Takizawa, Leena Pulkkinen, Hiroshi Shimizu, Lin Lin, SEIICHI Hagiwara, T. Níshikaẃa, Jouni Uitto

Journal of Investigative Dermatology · 1998 · 35 citations · 15 references

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15

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

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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.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

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Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Daniel Aberdam, M. Galliano, Joëlle Vailly et al. · Nature Genetics · 1994 · 338 citations

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Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair.

Maureen C. Ryan, Richard Tizard, Donald R. VanDevanter et al. · Journal of Biological Chemistry · 1994 · 279 citations · Full text

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Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa.

Patrick Verrando, C Blanchet‐Bardon, A. Pisani et al. · PubMed · 1991 · 157 citations

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