A homozygous missense mutation in the cytoplasmic tail of β4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? [3]

Journal of Investigative Dermatology

Volumn 114, Issue 5, 2000, Pages 1061-1064

  Inoue, Mitsuse ^e   Tamai, Katsuto ^a   Shimizu, Hiroshi ^b   Owaribe, Katsushi ^c   Nakama, Takekuni ^e   Hashimoto, Takashi ^e   McGrath, John A ^d  

^a HIROSAKI UNIVERSITY   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; INTEGRIN; LAMININ;

ATRESIA; CONTROLLED STUDY; DNA DETERMINATION; EPIDERMOLYSIS BULLOSA; GENE DISRUPTION; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYLORUS;

EID: 0034068641     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00960-3.x     Document Type: Letter

References (16)

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