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Browsing Moleküler Biyoloji ve Genetik by Subject "Mutation (Biology)"

Browsing Moleküler Biyoloji ve Genetik by Subject "Mutation (Biology)"

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  • A study for the detection of known and novel mutations in the cystic fibrosis transmembrane conductance regulator gene 
    Kılınç, Okyay. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1996., 1996.)
    Cystic fibrosis (CF) is one of the most common and severe autosomal recessive genetic disorders worldwide. It results from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). ...
  • Analysis of Turkish cystic fibrosis chromosomes 
    Akarsubaşı, Alper Tunga. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1995., 1995.)
    Cystic fibrosis (CF results from mutations in the gene encoding the cystic fibrosis transmembrane regulator (CFTR), a protein that regulates chloride ion transport in exocrine gladns. Since the cloning of the gene, more ...
  • Disease gene identification via linkage analysis and exome sequencing 
    Güven, Ayşe. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)
    Understanding the genetic basis of hereditary diseases elucidates the molecular mechanisms underlying disease manifestations and uncovers valuable information about gene function. Consanguineous families are very useful ...
  • Evaluation of exome sequencing data & mutation screening in GDAP1, GJB1, MPZ, NDRG1 and PMP22 genes in Turkish CMT patients 
    Sıvacı, Merve. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2013., 2013.)
    Charcot-Marie-Tooth (CMT) disease which is an inherited peripheral neuropathy is an excellent candidate to be analyzed by exome sequencing because of its locus heterogeneity and low prevalence. Protein-coding regions, ‘the ...
  • From mutations to disease mechanism in Rett Syndrome, breast cancer, and congenital hypothyroidism 
    Barış, İbrahim. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2008., 2008.)
    Epidemiological studies provide the correlative data to understand the etiology of human inherited diseases and develop efficient genetic testing assays. Additionally, the accumulated data of genetic and epigenetic findings, ...
  • Mutation, exome sequencing and linkage analyses in Turkish CMT families 
    Erdoğan, Alperen. (Thesis (M.S.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 2012., 2012.)
    Charcot-Marie-Tooth disease (CMT) also known as hereditary motor and sensory neuropathy (HMSN) is the most frequent inherited neuropathy. The patients with CMT generally have distal muscle weakness and atrophy in the ...

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