Loss-of-function FERMT1 mutations in Kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation

American Journal of Pathology

Volumn 175, Issue 4, 2009, Pages 1431-1441

  Lai Cheong, Joey E ^a   Parsons, Maddy ^b   Tanaka, Akio ^a   Ussar, Siegfried ^c   South, Andrew P ^d   Gomathy, Sethuraman ^e   Mee, John B ^a   Barbaroux, Jean Baptiste ^a   Techanukul, Tanasit ^a   Almaani, Noor ^a   Clements, Suzanne E ^a   Hart, Ian R ^f   McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c Max Planck Institute   (Germany)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^f QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6 INTEGRIN; BETA1 INTEGRIN; COLLAGEN TYPE 17; COLLAGEN TYPE 4; COLLAGEN TYPE 7; CYTOKERATIN 15; FERMITIN FAMILY HOMOLOG 1; FOCAL ADHESION KINASE; INTEGRIN; KALININ; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ANTIBODY LABELING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; FERMT1 GENE; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOLOCALIZATION; KERATINOCYTE; KINDLER SYNDROME; LOSS OF FUNCTION MUTATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SKIN ATROPHY;

EID: 73549096220     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2009.081154     Document Type: Article

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