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6. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Russell LJ; DiGiovanna JJ; Rogers GR; Steinert PM; Hashem N; Compton JG; Bale SJ Nat Genet; 1995 Mar; 9(3):279-83. PubMed ID: 7773290 [TBL] [Abstract][Full Text] [Related]
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8. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Hennies HC; Küster W; Wiebe V; Krebsová A; Reis A Am J Hum Genet; 1998 May; 62(5):1052-61. PubMed ID: 9545389 [TBL] [Abstract][Full Text] [Related]
9. Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice. Nakagawa N; Yamamoto M; Imai Y; Sakaguchi Y; Takizawa T; Ohta N; Yagi N; Hatta I; Hitomi K; Takizawa T; Takeda J; Tsuda T; Matsuki M; Yamanishi K J Dermatol Sci; 2012 Mar; 65(3):196-206. PubMed ID: 22258055 [TBL] [Abstract][Full Text] [Related]
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11. Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene. Rodríguez-Pazos L; Ginarte M; Vega-Gliemmo A; Toribio J Int J Dermatol; 2009 Nov; 48(11):1195-7. PubMed ID: 20064174 [TBL] [Abstract][Full Text] [Related]
12. Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. Bourrat E; Blanchet-Bardon C; Derbois C; Cure S; Fischer J Arch Dermatol; 2012 Oct; 148(10):1191-5. PubMed ID: 22801880 [TBL] [Abstract][Full Text] [Related]
13. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Laiho E; Ignatius J; Mikkola H; Yee VC; Teller DC; Niemi KM; Saarialho-Kere U; Kere J; Palotie A Am J Hum Genet; 1997 Sep; 61(3):529-38. PubMed ID: 9326318 [TBL] [Abstract][Full Text] [Related]
14. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Pigg M; Gedde-Dahl T; Cox D; Hausser I; Anton-Lamprecht I; Dahl N Eur J Hum Genet; 1998; 6(6):589-96. PubMed ID: 9887377 [TBL] [Abstract][Full Text] [Related]
15. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis. Hennies HC; Raghunath M; Wiebe V; Vogel M; Velten F; Traupe H; Reis A Hum Genet; 1998 Mar; 102(3):314-8. PubMed ID: 9544844 [TBL] [Abstract][Full Text] [Related]
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17. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Herman ML; Farasat S; Steinbach PJ; Wei MH; Toure O; Fleckman P; Blake P; Bale SJ; Toro JR Hum Mutat; 2009 Apr; 30(4):537-47. PubMed ID: 19241467 [TBL] [Abstract][Full Text] [Related]
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20. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. Farasat S; Wei MH; Herman M; Liewehr DJ; Steinberg SM; Bale SJ; Fleckman P; Toro JR J Med Genet; 2009 Feb; 46(2):103-11. PubMed ID: 18948357 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]