A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Nature Genetics

Volumn 13, Issue 1, 1996, Pages 70-77

  Maestrini, Elena ^a   Monaco, Anthony P ^a   McGrath, John A ^c,f   Ishida Yamamoto, Akemi ^d   Camisa, Charles ^e   Hovnanian, Alain ^a   Weeks, Daniel E ^a,b   Lathrop, Mark ^a   Uitto, Jouni ^c   Christiano, Angela M ^c,g  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e LERNER RESEARCH INSTITUTE   (United States)

^f ST THOMAS HOSPITAL   (United Kingdom)

^g Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL DIFFERENTIATION; CHROMOSOME 1Q; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENE LOCATION; GENE SEQUENCE; GENODERMATOSIS; HUMAN; HYPERKERATOSIS; KERATINOCYTE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL MEMBRANE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DNA PRIMERS; DNA TRANSPOSABLE ELEMENTS; FEMALE; GENETIC MARKERS; HUMANS; KERATINOCYTES; KERATODERMA, PALMOPLANTAR; LINKAGE (GENETICS); LOD SCORE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; SKIN; SYNDROME;

EID: 15844391073     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0596-70     Document Type: Article

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