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Mutations in the MEFV genes in patients with familial Mediterranean fever- clinical versus genetic diagnosis

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

Salah, Samya, Zakareya, Mussttafa, Aziz, Muna

Authors

Muhammad, Huda Marzouq

Accessioned

2017-04-26 12:05:38

Available

2017-04-26 12:05:38

type

M.D. Thesis

Abstract

Sixty –one FMF patients randomly selected from the Rheumatology clinic at Children's Abou El Rich Hospital to study variable clinical presentation of FMF, detection of phenotype-genotype correlation and screening a protocol for genetic mutations study in FMF patients. 3 sets of mutations were studied (V726A, M680I and M694V), and the study revealed V726A mutation was the most common (19.7%). Our data indicate that specific FMF mutations are not the sole determinants of disease severity and the development of amyloidosis

Issued

1 Jan 2008

DOI

http://dx.doi.org/10.21473/iknito-space/32206

Details

Type

Thesis

Created At

05 Feb 2023