| 1 | COL17A1, EBJ1A, EBJ1B, EBJ1C, EBJ2A, EBJ2B, EBJ2C, EBJ2D, EBJ2E, EBJPAA, EBS1, EBSMD, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2, PLEC
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| Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
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| Varki R, Sadowski S, Pfendner E, Uitto J.
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| J Med Genet 43(8):641-52. Epub 2006 Feb 10. 2006
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| 2 | EBJ1A, EBJ1B, EBJ1C, EBJ2B, EBJ2C, LAMA3, LAMB3, LAMC2
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| Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
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| Muhle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H.
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| Hum Genet 116(1-2):33-42. Epub 2004 Nov 05. 2005
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| 3 | EBJ2B, LAMB3
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| Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.
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| Takizawa Y, Hiraoka Y, Takahashi H, Ishiko A, Yasuraoka I, Hashimoto I, Aiso S, Nishikawa T, Shimizu H.
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| J Invest Dermatol 115(2):312-6. 2000
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| 4 | EBJ2B, LAMB3
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| Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
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| Posteraro P, Sorvillo S, Gagnoux-Palacios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G.
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| Biochem Biophys Res Commun 243(3):758-64. 1998
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| 5 | EBJ2B, LAMB3
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| E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
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| Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA.
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| Br J Dermatol 139(2):325-31. 1998
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| 6 | EBJ2B, LAMB3
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| Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.
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| Pulkkinen L, Uitto J.
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| J Invest Dermatol 111(6):1244-6. 1998
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| 7 | EBJ2B, LAMB3
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| LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
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| Pulkkinen L, Jonkman MF, McGrath JA, Kuijpers A, Paller AS, Uitto J.
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| Lab Invest 78(7):859-67. 1998
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| 8 | EBJ1B, EBJ2B, LAMB3
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| Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa.
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| Shimizu H, Takizawa Y, McGrath JA, Pulkkinen L, Christiano AM, Uitto J, Burgeson RE, Iwatsuki K, Niimi N, Noguchi M, Imayama S, Abe Y, Shirakata Y, Hagiwara S, Saida T, Ogawa H, Hashimoto I, Nishikawa T.
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| Arch Dermatol Res 289(3):174-6. 1997
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| 9 | EBJ1B, EBJ2B, LAMB3
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| Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
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| Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J.
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| Am J Hum Genet 61(3):611-9. 1997
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| 10 | EBJ2B, EBJ2E
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| Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
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| Jonkman MF, et al.
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| Arch Dermatol 132 : 145-150. 1996
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| 11 | EBJ2B, LAMB3
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| Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.
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| McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J.
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| J Invest Dermatol 104(4):467-74. 1995
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| 12 | EBJ2B
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| Generalized atrophic benign epidermolysis bullosa.
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| Hintner H, et al.
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| Arch Dermatol 118 : 375-384. 1982
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