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PubMed · 6672822

[Current methods in automated statistical analysis].

D Praganov·I Kalpazanov·G Simeonov
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Abstract

The advantages and disadvantages of the so called minicomputers (e.g. type NOVA) and microcomputers (e.g. type NR 95) are compared in their use for statistical analysis. In spite of some advantages - autonomy, possibilities for immediate use, etc. of microcomputers, the minicomputers, type NOVA, were established to enable the elimination of their non-specific work for the non-mathematical specialists, their direction to the most proper and complexly applied statistical method in the organized statistical processing, existing at the Institute of Hygiene and Occupational Diseases, hence the expenditures would be lower and reability - higher.

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BulgariaComputersMicrocomputersMinicomputersOccupational MedicineStatistics as TopicComparative StudyEnglish AbstractJournal Article

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D Praganov, I Kalpazanov, G Simeonov. 1983. [Current methods in automated statistical analysis].. https://pubmed.ncbi.nlm.nih.gov/6672822/

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Deletion analysis of Bulgarian SMA families.

All three types of autosomal recessive spinal muscular atrophy map to chromosome region 5q13. Recent reports suggest that they are associated with deletions of two adjacent genes: SMN and NAIP. Here we report the first deletion analysis of Bulgarian SMA families. Homozygous deletion of exons 7 and 8 of the SMN gene were found in 85% of our patients, but the NAIP gene (exons 5 and 6) was deleted in only 26% of patients. To our knowledge, these frequencies are some of the lowest reported so far. The NAIP gene was deleted predominantly in severely affected patients (type I), while in the group with milder types SMA only deletions of the SMN gene were detected. Our phenotype-genotype correlation study confirmed that larger deletions are associated with more severe clinical course. The Bulgarian data support the thesis that the telomeric SMN gene could play a major role in determining SMA, while the NAIP or the centromeric SMN copy have a modifying effect on the phenotype.

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