Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: Molecular, genetic, genealogic, and clinical studies

Human Genetics

Volumn 106, Issue 5, 2000, Pages 492-499

  Shevchenko, Yuriy O ^a   Compton, John G ^a,c   Toro, Jorge R ^a   DiGiovanna, John J ^a,b   Bale, Sherri J ^a,c  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b BROWN UNIVERSITY   (United States)

^c GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BINDING SITE; CHROMOSOME; CLINICAL ARTICLE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONTROLLED STUDY; DEVICE; ERYTHRODERMA; ETHNOLOGY; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; GENEALOGY; GENETIC RECOMBINATION; GENODERMATOSIS; GENOTYPE; GERMANY; HAPLOTYPE; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MALE; MOLECULAR BIOLOGY; NORWAY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; WESTERN HEMISPHERE;

EID: 0034116826     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000284     Document Type: Article

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