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