Concepedia

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense

Leena Pulkkinen, Fatima Rouan, Leena Bruckner–Tuderman, Robert Wallerstein, Maria C. Garzón, Tod A. Brown, Lynne T. Smith, William Carter, Jouni Uitto

The American Journal of Human Genetics · 1998 · 116 citations · 29 references

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References

29

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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Integrin alpha 6/beta 4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion.

Arnoud Sonnenberg, Jero Calafat, Hans Janssen et al. · The Journal of Cell Biology · 1991 · 573 citations · Full text

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Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice

Elisabeth Georges‐Labouesse, Nadia Messaddeq, Ghassan Yehia et al. · Nature Genetics · 1996 · 541 citations

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Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival.

James J. Dowling, Q C Yu, Elaine Fuchs · The Journal of Cell Biology · 1996 · 502 citations · Full text

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Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes.

Mary Ann Stepp, Sandra Spurr-Michaud, Ann Tisdale et al. · Proceedings of the National Academy of Sciences · 1990 · 481 citations

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