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TITLE: Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
AUTHORS: Joao Farela Neves; Isabel Afonso; Luis Borrego; Catarina Martins; Ana Isabel Cordeiro; Conceicao Neves; Caroline Lacoste; Catherine Badens; Alexandre Fabre;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
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TITLE: Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype  Full Text
AUTHORS: Joana A Santos; Juan I Arostegui; Maria J Brito; Conceicao Neves; Marta P Conde;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 542, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef