A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Ortega-Recalde, O
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. [electronic resource] - Clinical and experimental dermatology Oct 2015 - 757-60 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1365-2230
10.1111/ced.12627 doi
Adult
Female
Genes, Recessive
Genetic Predisposition to Disease
Humans
Ichthyosiform Erythroderma, Congenital--genetics
Mutation
RNA Splice Sites--genetics
Transglutaminases--genetics
A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. [electronic resource] - Clinical and experimental dermatology Oct 2015 - 757-60 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1365-2230
10.1111/ced.12627 doi
Adult
Female
Genes, Recessive
Genetic Predisposition to Disease
Humans
Ichthyosiform Erythroderma, Congenital--genetics
Mutation
RNA Splice Sites--genetics
Transglutaminases--genetics