Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations(including 23 novel) and modeling of TGase-1

Human Mutation

Volumn 30, Issue 4, 2009, Pages 537-547

  Herman, Matthew L ^a   Farasat, Sharifeh ^a   Steinbach, Peter J ^b   Wei, Ming Hui ^a,c   Toure, Ousmane ^a   Fleckman, Philip ^d   Blake, Patrick ^a,e   Bale, Sherri J ^f   Toro, Jorge R ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c SAIC FREDERICK INC   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f GENEDX   (United States)

Author keywords

ARCI; Autosomal recessive congenital ichthyosis; Molecular modeling; Mutation update; TGAse 1; TGM1 gene

Indexed keywords

ARGININE; CPG OLIGODEOXYNUCLEOTIDE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; ETHNIC DIFFERENCE; GENE MUTATION; HUMAN; ICHTHYOSIS; INDEL MUTATION; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; RNA SPLICING;

ANIMALS; DISEASE MODELS, ANIMAL; GENES, RECESSIVE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MODELS, MOLECULAR; MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; TRANSGLUTAMINASES;

EID: 63749132353     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20952     Document Type: Review

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