Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis [3]

Journal of Investigative Dermatology

Volumn 116, Issue 6, 2001, Pages 992-993

  Akiyama, Masashi ^c   Takizawa, Yasuko ^a   Suzuki, Yosuke ^a   Ishiko, Akira ^a   Matsuo, Itsuro ^c   Shimizu, Hiroshi ^b  

^a KEIO UNIVERSITY   (Japan)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; LEUCINE;

ADULT; AMINO ACID SEQUENCE; CASE REPORT; CLINICAL FEATURE; FEMALE; HETEROZYGOTE; HISTOLOGY; HUMAN; LAMELLAR ICHTHYOSIS; LETTER; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; SYMPTOM;

EID: 0034979547     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2001.01367.x     Document Type: Letter

References (21)

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