Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway

European Journal of Human Genetics

Volumn 6, Issue 6, 1998, Pages 589-596

  Pigg, Maritta ^a   Gedde Dahl Jr , Tobias ^b   Cox, Diane ^c   Haußer, Ingrid ^d   Anton Lamprecht, Ingrun ^d   Dabi, Niklas ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF ALBERTA   (Canada)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Founder effect; Lamellar ichthyosis; Non bullous congenital ichthyosiform erythroderma; Transglutaminase 1 (TGM1) gene

Indexed keywords

COMPLEMENTARY DNA; DNA MARKER; MICROSATELLITE DNA; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FOUNDER EFFECT; FRAMESHIFT MUTATION; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LAMELLAR ICHTHYOSIS; MAJOR CLINICAL STUDY; NORWAY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STOP CODON;

EID: 0032420576     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200224     Document Type: Article

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