| 1 | EBJ1B, LAMB3, LAMC2
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| Herlitz junctional epidermolysis bullosa.
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| Laimer M, Lanschuetzer CM, Diem A, Bauer JW.
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| Dermatol Clin 28(1):55-60. Review.
2010
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| 2 | EBJ1B, LAMB3
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| Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
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| Castori M, Floriddia G, Pisaneschi E, Covaciu C, Paradisi M, Torrente I, Castiglia D.
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| J Dermatol Sci 51(1):58-61. Epub 2008 Apr 1. No abstract available.
2008
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| 3 | 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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| 4 | 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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| 5 | EBJ1B, LAMB3
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| Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.
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| Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J.
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| J Invest Dermatol 110(5):828-31. 1998
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| 6 | 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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| 7 | 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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| 8 | EBJ1B, LAMB3
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| Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
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| Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM.
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| Hum Mol Genet 5(2):231-7 1996
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| 9 | EBJ1B, LAMB3
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| Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa.
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| Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J.
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| Genomics 25(1):192-8. 1995
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| 10 | EBJ1B, LAMB3
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| Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.
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| Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne JP, Meneguzzi G.
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| J Invest Dermatol 104(4):462-6. 1995
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| 11 | EBJ1B, LAMB3
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| A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.
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| Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J.
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| Genomics 24(2):357-60. 1994
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