A Severe Autosomal-Dominant Periodic Inflammatory Disorder with Renal AA Amyloidosis and Colchicine Resistance Associated to the MEFV H478Y Variant in a Spanish Kindred: An Unusual Familial Mediterranean Fever Phenotype or Another MEFV-Associated Periodic Inflammatory Disorder?

American Journal of Medical Genetics

Volumn 124 A, Issue 1, 2004, Pages 67-73

  Aldea, Anna ^a   Campistol, Josep M ^b   Arostegui, Juan I ^a   Rius, Josefa ^a   Maso, Montserrat ^a   Vives, Jordi ^a   Yagüe, Jordi ^a,c  

^a Inst Clin d'Infec Immunol (ICII)   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

Author keywords

Autosomal dominant inheritance; Familial Mediterranean fever (FMF); Hereditary periodic fever (HPF) syndromes

Indexed keywords

AMYLOID A PROTEIN; COLCHICINE; INFLIXIMAB;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 16P; CIAS1 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL MEDITERRANEAN FEVER; FAMILY; FEMALE; FEVER; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INFLAMMATORY DISEASE; KIDNEY AMYLOIDOSIS; MALE; MEFV GENE; MEFV H478Y GENE; NALP3 GENE; PRIORITY JOURNAL; PYPAF1 GENE; RENAL AA AMYLOIDOSIS; SPAIN; TNFRSF1A GENE;

EID: 0942287854     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20296     Document Type: Article

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