✦ LIBER ✦

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis

✍ Scribed by X. Cao; Z. Lin; H. Yang; D. Bu; P. Tu; L. Chen; H. Wu; Y. Yang

Book ID: 108695200
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 606 KB
Volume: 34
Category: Article
ISSN: 0307-6938
DOI: 10.1111/j.1365-2230.2009.03288.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in the gene for transglutamina

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

✍ Russell, Laura J.; DiGiovanna, John J.; Rogers, Geraldine R.; Steinert, Peter M. 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 629 KB

Lamellar ichthyosis with a novel homozyg

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene

✍ Laura Rodríguez-Pazos; Manuel Ginarte; Ana Vega-Gliemmo; Jaime Toribio 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB

Identification of mutations in the trans

Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis

✍ J. Tok; M. C. Garzon; P. Cserhalmi-Friedman; H. M. Lam; J. L. Spitz; A. M. Chris 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 321 KB

Haplotype association and mutation analy

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

✍ Maritta Pigg; Tobias Gedde-Dahl Jr; Diane W. Cox; Guttorm Haugen; Niklas Dahl 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

Lamellar ichthyosis (LI) is an autosomal recessive keratinization disorder of the skin. Genetic heterogeneity has been shown for the disease and there is evidence for the involvement of the transglutaminase 1 (TGM1) gene on chromosome 14q11. We have previously identi®ed chromosome 14q11 haplotypes a

Diagnosis of autosomal recessive lamella

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene

✍ P.B. Cserhalmi-Friedman; L.M. Milstone; A.M. Christiano 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB

Strong founder effect for a transglutami

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

✍ Pigg, Maritta; Jr, Tobias Gedde-Dahl; Cox, Diane; Haußer, Ingrid; Anton-Lamprech 📂 Article 📅 1998 🏛 Nature Publishing Group 🌐 English ⚖ 287 KB