Screening hot-spot exons of COL7A1 gene in Egyptian patients with dystrophic epidermolysis bullosa / (Record no. 55103)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02527cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031427.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 160221s2015 ua dh 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.Ho.S |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Hoda Abdallah Ahmed |
| 245 10 - TITLE STATEMENT | |
| Title | Screening hot-spot exons of COL7A1 gene in Egyptian patients with dystrophic epidermolysis bullosa / |
| Statement of responsibility, etc. | Hoda Abdallah Ahmed ; Supervised Lamia Ali Mansour , Laila Kamal Eldin Effat , Enas Hamdy Mahmoud |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | فى المرضى المصابين بالتحلل الجلدى الفقاعى الضمورىCOL7A1الكشف عن الطفرات الاكثر لجين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Hoda Abdallah Ahmed , |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 98 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. | Background: Dystrophic epidermolysis bullosa is a rare heritable skin disorder characterized by trauma- induced blistering and scarring. DEB is caused by mutation in the gene encoding type VII collagen (COL7A1). It is transmitted either in dominant (DDEB) or recessive (RDEB) mode. More than 730 different COL7A1 mutations have been identified in DEB. It has been described that approximately 75% of the DEB mutations occur in exons 73, 74 and 75. Objectives: To screen exons 73, 74 and 75 of COL7A1 gene, harboring majority of mutations (or hot-spot exons for mutation), in Egyptian patients with DEB. Results: In this study we identified one novel mutation (G2055R) in one family, this mutation was detected in exon73. This patient was homozygous for the mutation and the parents were heterozygote for the same mutation. Conclusion: The present study is the first molecular diagnostic report from Egypt. Study of whole COL7A1 gene is recommended to detect types and frequencies of COL7A1 gene mutations in Egyptian patients suffering from DEB. This study reveals novel disease-causing mutations in the COL7A1 gene |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | COL7A1 |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Dystrophic epidermolysis bullosa |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Novel mutation |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Enas Hamdy Mahmoud , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laila Kamal Eldin Effat , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamia Ali Mansour , |
| 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 | Nazla |
| Reviser | Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Soheir |
| Reviser | Cataloger |
| 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.Ho.S | 01010110067980000 | 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.Ho.S | 01020110067980000 | 22.09.2023 | CD - Rom | 67980.CD |