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Volumn 112, Issue 3, 1999, Pages 376-379

A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin I chain in epidermolytic hyperkeratosis

(8) Yang, Jum Mo a,b Nam, Kiebang b Kim, Hyong Cheol b Lee, Jeung Hoon c Park, Jang Ku c Wu, Kenneth d Lee, Eil Soo a Steinert, Peter M d

a Sungkyunkwan University School of Medicine (South Korea)

b Samsung Medical Center (South Korea)

c Chungnam National University (South Korea)

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

Author keywords

Epidermolytic hyperkeratosis; Glutamic acid; Keratin

Indexed keywords

ASPARTIC ACID; DNA; GLUTAMIC ACID; KERATIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE MUTATION; GENODERMATOSIS; HUMAN; HUMAN CELL; HYPERKERATOSIS; INTERMEDIATE FILAMENT; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN DISEASE;

AMINO ACID SUBSTITUTION; ASPARTIC ACID; BASE SEQUENCE; FEMALE; GLUTAMIC ACID; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; INTERMEDIATE FILAMENTS; KERATINS; MALE; PEDIGREE;

EID: 0032978883 PISSN: 0022202X EISSN: None Source Type: Journal
DOI: 10.1046/j.1523-1747.1999.00526.x Document Type: Article

Times cited : (25)

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