| 1 | EBJPAB, ITGB4
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| Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.
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| Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R.
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| Am J Med Genet A 146A(8):1063-6. No abstract available. 2008
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| 2 | EBJPAB
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| Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
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| Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J.
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| Pediatr Res 49(5):618-26. 2001
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| 3 | EBJPAB, ITGB4
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| Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
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| Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G.
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| Hum Mol Genet 8(11):2097-105 1999
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| 4 | ATF4B, ATF4C, D17S1534, D17S802, D17S929, D17S939, EBJPAB, GRB2, HNA, ITGB4, LGALS3BP, NPTX1, SRSF2, ST6GALNAC2
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| A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.
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| Kuhlenbaumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stogbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V.
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| Genomics 62(2):242-50. 1999
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| 5 | EBJPAB, ITGB4
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| Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia : missense versus nonsense.
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| Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J.
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| Am J Hum Genet 63(5):1376-87 1998
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| 6 | EBJPAB, ITGB4
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| Pyloric atresia-junctional epidermolysis bullosa syndrome : mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
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| Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA.
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| Br J Dermatol 139(5):862-71 1998
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| 7 | EBJPAB, ITGB4
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| Genomic organization of the human integrin beta4 gene.
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| Iacovacci S, Gagnoux-Palacios L, Zambruno G, Meneguzzi G, D'Alessio M.
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| Mamm Genome 8(6):448-50. No abstract available. 1997
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| 8 | EBJPAB, ITGB4
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| Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.
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| Takizawa Y, Shimizu H, Nishikawa T, Hatta N, Pulkkinen L, Uitto J.
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| J Invest Dermatol 108(6):943-6. 1997
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| 9 | EBJPAB, ITGB4
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| Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
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| Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G.
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| Nat Genet 10(2):229-34. 1995
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