A novel theonine → proline mutation at the end of 2b rod domain in the keratin 2e chain in ichthyosis bullosa of siemens

Journal of Investigative Dermatology

Volumn 109, Issue 1, 1997, Pages 116-118

  Yang, Jun Mo ^a,b   Lee, Seewoo ^b   Bang, Hyeong Don ^c   Kim, Won Serk ^a   Lee, Eil Soo ^a   Steinert, Peter M ^d  

^a Sungkyunkwan University   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Seoul National University   (South Korea)

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

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; PROLINE; THREONINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BULLOUS SKIN DISEASE; CODON; HUMAN; ICHTHYOSIS; INTERMEDIATE FILAMENT; PHENOTYPE; PRIORITY JOURNAL; BIOPSY; CHEMISTRY; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; EXON; GENETICS; PATHOLOGY; POINT MUTATION; PROTEIN TERTIARY STRUCTURE; SKIN;

BIOPSY; EXONS; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; ICHTHYOSIS; KERATINS; POINT MUTATION; PROLINE; PROTEIN STRUCTURE, TERTIARY; SKIN; THREONINE;

EID: 0030612283     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12276775     Document Type: Article

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