Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause nagashima-type palmoplantar keratosis

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 945-956

  Kubo, Akiharu ^a   Shiohama, Aiko ^a   Sasaki, Takashi ^a   Nakabayashi, Kazuhiko ^b   Kawasaki, Hiroshi ^a   Atsugi, Toru ^a,c   Sato, Showbu ^a   Shimizu, Atsushi ^a   Mikami, Shuji ^d   Tanizaki, Hideaki ^e   Uchiyama, Masaki ^f   Maeda, Tatsuo ^f   Taisuke, Ito ^a   Sakabe, Jun Ichi ^g   Heike, Toshio ^e   Okuyama, Torayuki ^h   Kosaki, Rika ^h   Kosaki, Kenjiro ^a   Kudoh, Jun ^a   Hata, Kenichiro ^b   Umezawa, Akihiro ^b   Tokura, Yoshiki ^g   Ishiko, Akira ⁱ   Niizeki, Hironori ^h   Kabashima, Kenji ^e   Mitsuhashi, Yoshihiko ^f   Amagai, Masayuki ^a   more..

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c Cutaneous Research Section   (Japan)

^d KEIO UNIVERSITY HOSPITAL   (Japan)

^e KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f TOKYO MEDICAL UNIVERSITY   (Japan)

^g HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

ⁱ TOHO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROSERPIN; STEFIN A; THYMIC STROMAL LYMPHOPOIETIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CELL DIFFERENTIATION; CHINESE; CHROMOSOME 18; CYTOPLASM; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOTE; HOMEOSTASIS; HUMAN; INDEL MUTATION; JAPANESE; KERATINOCYTE; LOSS OF FUNCTION MUTATION; MECHANICAL STRESS; NAGASHIMA TYPE PALMOPLANTAR KERATOSIS; NONSENSE MUTATION; ONSET AGE; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SERPINB7 GENE; SKIN WATER LOSS; START CODON; STOP CODON; STRATUM CORNEUM; TRANSCRIPTION INITIATION SITE;

EID: 84890213862     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.015     Document Type: Article

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