The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 581-589

  Ishida Yamamoto, Akemi ^a   McGrath, John A ^b   Lam, HaMut ^c   Iizuka, Hajime ^a   Friedman, Richard A ^d   Christiano, Angela M ^c  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c College of Physicians and Surgeons ^*  (United States)

^d New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; KERATINOCYTE; KERATODERMA; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0030763564     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515518     Document Type: Article

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