نتایج جستجو برای: gene deletion
تعداد نتایج: 1179434 فیلتر نتایج به سال:
The SMN1 and NAIP genes are related to the development of spinal muscular atrophy (SMA), which is characterized by degeneration of motor neurons leading to progressive muscular weakness and atrophy. The SMN1 gene is homozygously deleted in most SMA patients, and now recognized as a responsible gene for SMA. The NAIP gene is often deleted in the SMA patients with the severest form of SMA, and no...
Abstract Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from patient with family history CRB1-retinal dystrophy was used prepare iPSC line ESi082-A. The genotype donor, affected perifoveal-bilateral macular includes one frameshift deletion and hypomorphic allele. ESi082-A cell has been characterized for pluripotency w...
proximal spinal muscular atrophy (sma) is one of the most common autosomal recessive disorders. sma has an estimated incidence of 1 in 10,000 live births. the clinical picture of sma is quite variable and childhood sma has been classified into 3 types. type i, werdnig-hoffmann disease, is the most acute and severe, with an onset before the age of 6 months and death usually occurring before the ...
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