نتایج جستجو برای: gene deletion

تعداد نتایج: 1179434  

Aghil Esmaeili-Bandboni, Alireza Sharafshah, Arash Davoudi, Fereshteh Fallahabadi, Forozan Milani, Parvaneh Keshavarz, Sara Afzali,

The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...

Journal: :iranian biomedical journal 0
نیره نوری nayereh nouri نرگس نوری narges nouri امید آریانی omid aryani بهنام کمالی دهقان behnam kamalidehghan مریم صدقی maryam sedghi مسعود هوشمند massoud houshmand

background: ataxia with oculomotor apraxia type 1 (aoa1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (aptx) gene encoding for the aptx protein. methods: in this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and aoa, with increased cholesterol concentration and decr...

Journal: :Comparative and Functional Genomics 2002
Xin Li Michael Lassner Yuelin Zhang

Deleteagene (Delete-a-gene) is a deletion-based gene knockout system for plants. To obtain deletion mutants for a specific gene, random deletion libraries created by fast neutron mutagenesis are screened by polymerase chain reaction (PCR) using primers flanking the target gene. By adjusting the PCR extension time to preferentially amplify the deletion alleles, deletion mutants can be identified...

Journal: :Applied and Environmental Microbiology 2008

Journal: :Journal of Cellular and Molecular Medicine 2012

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