A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

Rheumatology International

Volumn 28, Issue 4, 2008, Pages 379-383

  Gunduz, Zubeyde ^a   Dursun, Ismail ^a,c   Aróstegui, Juan I ^b   Yagüe, Jordi ^b   Dusunsel, Ruhan ^a   Poyrazoglu, Hakan M ^a   Gurgoze, Metin Kaya ^a   Yıkılmaz, Ali ^a  

^a ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

^b HOSPITAL CLÍNIC   (Spain)

^c Bahcelievler Mah   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ETANERCEPT; LEUCINE; VALINE;

ADOLESCENT; ARTICLE; BONE MARROW EXAMINATION; BONE SCINTISCANNING; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CINCA SYNDROME; ECHOCARDIOGRAPHY; FATALITY; FOUNDER EFFECT; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HUMAN; INTESTINE BIOPSY; LABORATORY TEST; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN BIOPSY; ULTRASOUND;

EID: 38049034933     PISSN: 01728172     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00296-007-0432-4     Document Type: Article

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