A NOVEL MUTATION K447M (P.LYS447MET, C.1340 A>T) IDENTIFIED IN EXON 4 OF THE MEFV GENE.

Eroz, R; Dogan, M; Kocabay, K

Eroz, R; Dogan, M; Kocabay, K.

Genet Couns ; 27(4): 525-528, 2016.

Article in En | MEDLINE | ID: mdl-30226974

Subject(s)

DNA Mutational Analysis; Exons/genetics; Familial Mediterranean Fever/genetics; Hereditary Autoinflammatory Diseases/genetics; Pyrin/genetics; Adult; Amyloidosis/diagnosis; Amyloidosis/genetics; Child; Child, Preschool; Chromosome Aberrations; Familial Mediterranean Fever/diagnosis; Female; Genes, Recessive/genetics; Genetic Carrier Screening; Genotype; Hereditary Autoinflammatory Diseases/diagnosis; History, 16th Century; History, Medieval; Humans; Male; Pedigree; Phenotype; Turkey; Exome Sequencing

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Collection: 01-internacional Database: MEDLINE Main subject: Familial Mediterranean Fever / DNA Mutational Analysis / Exons / Hereditary Autoinflammatory Diseases / Pyrin Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Genet Couns Year: 2016 Document type: Article

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