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Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ...
Mutations In Cgi-58, The Gene Encoding A New Protein Of The Esterase/Lipase/Thioesterase Subfamily, In Chanarin-Dorfman Syndrome
(Cell Press, 2001)
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in most tissues. We ...
Mutations Of The Cftr Gene In Turkish Patients With Congenital Bilateral Absence Of The Vas Deferens
(Oxford Univ Press, 2004)
BACKGROUND: Mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) can cause congenital bilateral absence of the vas deferens (CBAVD) as a primarily genital form of cystic fibrosis. The spectrum and ...
Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...