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Year | Number of Results |
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2009 | 1 |
2012 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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Page 1
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418.
Acta Derm Venereol. 2016.
PMID: 27025581
Free article.
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia.
Numata S, Teye K, Krol RP, Karashima T, Fukuda S, Matsuda M, Ishii N, Furumura M, Ohata C, Saminathan SD, Ariffin R, Pramono ZA, Leong KF, Hamada T, Hashimoto T.
Numata S, et al.
J Dermatol Sci. 2015 Apr;78(1):82-5. doi: 10.1016/j.jdermsci.2015.02.006. Epub 2015 Feb 19.
J Dermatol Sci. 2015.
PMID: 25766764
No abstract available.
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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.
Herman ML, et al.
Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.
Hum Mutat. 2009.
PMID: 19241467
Free PMC article.
Review.
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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E.
Terrinoni A, et al.
Cell Death Dis. 2012 Oct 25;3(10):e416. doi: 10.1038/cddis.2012.152.
Cell Death Dis. 2012.
PMID: 23096117
Free PMC article.
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