Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population-Reference-Cited by-同舟云学术

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Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Published:1997-09 Issue:3 Volume:61 Page:529-538
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Laiho Elina,Ignatius Jaakko,Mikkola Hanna,Yee Vivien C.,Teller David C.,Niemi Kirsti-Maria,Saarialho-Kere Ulpu,Kere Juha,Palotie Aarno

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Transglutaminases: protein cross-linking enzymes in tissues and body fluids;Aeschlimann;Thromb Haemost,1994

2. The genetics of ichthyosis: a primer for epidemiologists;Bale;J Invest Dermatol Suppl,1994

3. X-PLOR: a system for X-ray crystallography and NMR;Brunger,1992

4. Disease gene mapping in isolated human populations: the example of Finland;de la Chapelle;J Med Genet,1993

5. A comprehensive genetic map of the human genome based on 5,264 microsatellites;Dib;Nature,1996

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1. High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”;European Journal of Medical Genetics;2023-10

2. Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population;International Ophthalmology;2023-08-05

3. Ophthalmic Findings in Patients with Autosomal Recessive Lamellar Ichthyosis due to TGM1 Mutations in an Isolated Population;2023-04-05

4. Ichthyosis;Nature Reviews Disease Primers;2023-01-19

5. Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report;Pharmacogenomics and Personalized Medicine;2022-06

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