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Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis

✍ Scribed by J. Tok; M. C. Garzon; P. Cserhalmi-Friedman; H. M. Lam; J. L. Spitz; A. M. Christiano

Book ID: 111243911
Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 321 KB
Volume: 8
Category: Article
ISSN: 0906-6705
DOI: 10.1111/j.1600-0625.1999.tb00360.x

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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