Molecular analysis among a group of egyptian duchenne muscular dystrophy patients using real-time PCR / (Record no. 56851)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02264cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031520.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 160609s2015 ua hd f m 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GiCUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GiCUC |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposite |
| 097 ## - Thesis Degree | |
| Thesis Level | Ph.D |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.Ph.D.2015.La.M |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Lamiaa Tarek Tawfik |
| 245 10 - TITLE STATEMENT | |
| Title | Molecular analysis among a group of egyptian duchenne muscular dystrophy patients using real-time PCR / |
| Statement of responsibility, etc. | Lamiaa Tarek Tawfik ; Supervised Badawy Elkholy , Dina Elabd , Dina Hesham |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | التشخيص الوراثي الجزيئي الجيني لحالات أمراض الضمور المتدهور للعضلات الدوشيني في الأطفال المصريين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Lamiaa Tarek Tawfik , |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 217 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disease of children. It is caused by deficiency of the dystrophin protein, located at the subsarcolemmal surface of the muscle fiber and necessary for maintaining the integrity of both skeletal and smooth muscles. Dystrophin protein is encoded by dystrophin gene which is localized to the short arm of the X chromosome, position 21.1q. A mutation in the dystrophin gene results in this disorder. Deletions account for 65% of rearrangements in the dystrophin gene . The aim of this work is to analyze three common deletions in a group of Egyptian DMD patients, namely exons 48, 49 and 51. A genotype/phenotype correlation is drawn in an attempt to through more light upon the nature of the disease and its prognosis. The 3 exons lie within the distal hotspot region (exon 44-55) of the dystrophin gene |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Duchenne Muscular |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Molecular Analysis |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Real-Time PCR |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badawy El-Kholy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dina ElAbd , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dina Hesham , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Aml |
| Reviser | Cataloger |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Nazla |
| Reviser | Revisor |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.11.07.Ph.D.2015.La.M | 01010110069165000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.Ph.D.2015.La.M | 01020110069165000 | 22.09.2023 | CD - Rom | 69165.CD |