The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

Journal of Investigative Dermatology

Volumn 136, Issue 3, 2016, Pages 719-721

  Sathishkumar, Dharshini ^a   Orrin, Elizabeth ^b,c   Terron Kwiatkowski, Ana ^d   Browne, Fiona ^e   Martinez, Anna E ^b   Mellerio, Jemima E ^b,c   Ogboli, Malobi ^a   Hoey, Susannah ^f   Ozoemena, Linda ^c   Liu, Lu ^c   Baty, David ^d   McGrath, John A ^g   Moss, Celia ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d NINEWELLS HOSPITAL   (United Kingdom)

^e ST JAMES S HOSPITAL   (Ireland)

^f ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^g KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANTIBIOTIC AGENT; CPG OLIGODEOXYNUCLEOTIDE; CYTOKERATIN 14; CYTOKERATIN 16; CYTOKERATIN 5; CYTOSINE; GLUTAMIC ACID; LYSINE; OPIATE; KRT14 PROTEIN, HUMAN; KRT5 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ANALGESIA; ARTICLE; CAUSE OF DEATH; CONGENITAL HYPOTHYROIDISM; DIAGNOSTIC TEST; DISEASE SEVERITY; DNA DETERMINATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILY HISTORY; FEEDING DIFFICULTY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HOARSENESS; HUMAN; IMMUNOFLUORESCENCE; LANGERHANS CELL; MEDICAL CARE; MORTALITY; NONHUMAN; PALMOPLANTAR KERATODERMA; PARENTERAL NUTRITION; PERIODONTAL DISEASE; PRIORITY JOURNAL; RECURRENT INFECTION; SKIN DEFECT; SKIN FRAGILITY; SKIN INFECTION; DNA MUTATIONAL ANALYSIS; EPIDEMIOLOGY; FEMALE; GENETICS; INFANT; MALE; MISSENSE MUTATION; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROGNOSIS; SURVIVAL RATE;

CAUSE OF DEATH; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KERATIN-14; KERATIN-5; MALE; MUTATION, MISSENSE; PROGNOSIS; SAMPLING STUDIES; SURVIVAL RATE;

EID: 84977765559     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2015.11.024     Document Type: Article

References (8)

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