Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis

Journal of Investigative Dermatology

Volumn 120, Issue 1, 2003, Pages 170-172

  Kon, Atsushi ^a   Takeda, Hitoshi ^a   Sasaki, Hideyuki ^a   Yoneda, Kozo ^b   Nomura, Kazuo ^a,c   Ahvazi, Bijan ^d   Steinert, Peter M ^d   Hanada, Katsumi ^a   Hashimoto, Isao ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; TRANSGLUTAMINASE 1; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; CLINICAL FEATURE; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVITY; FAMILY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; JAPAN; LAMELLAR ICHTHYOSIS; LETTER; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0037244672     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.19522.x     Document Type: Letter

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