Integrin α3 mutations with kidney, lung, and skin disease

New England Journal of Medicine

Volumn 366, Issue 16, 2012, Pages 1508-1514

  Has, Cristina ^a   Spartà, Giuseppina ^c   Kiritsi, Dimitra ^a   Weibel, Lisa ^d   Moeller, Alexander ^c   Vega Warner, Virginia ^e   Waters, Aoife ^f   He, Yinghong ^a   Anikster, Yair ^g   Esser, Philipp ^a   Straub, Beate K ^b   Hausser, Ingrid ^b   Bockenhauer, Detlef ^f   Dekel, Benjamin ^g   Hildebrandt, Friedhelm ^e   Bruckner Tuderman, Leena ^a   Laube, Guido F ^c  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c Children's Hospital Zurich   (Switzerland)

^d UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD HEALTH; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DISEASE COURSE; EPIDERMOLYSIS BULLOSA; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE EXPRESSION REGULATION; GENE LOCUS; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INTEGRIN ALPHA3 GENE; INTERSTITIAL LUNG DISEASE; KIDNEY BIOPSY; KIDNEY FAILURE; LABORATORY DIAGNOSIS; MALE; MEMBRANE DAMAGE; MEMBRANE STRUCTURE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; OXYGEN SUPPLY; PERITONEAL DIALYSIS; PERMEABILITY BARRIER; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKIN FRAGILITY; THORAX RADIOGRAPHY;

EID: 84859826518     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1110813     Document Type: Article

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