MDR3 gene mutation in children with progressive familial intrahepatic cholestasis / (Record no. 53702)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02303cam a2200325 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 151202s2015 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 | M.Sc |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.M.Sc.2015.No.M |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Nora Hassan Radwan Mahmoud |
| 245 10 - TITLE STATEMENT | |
| Title | MDR3 gene mutation in children with progressive familial intrahepatic cholestasis / |
| Statement of responsibility, etc. | Nora Hassan Radwan Mahmoud ; Supervised Manal Kamal , Hanaa Alkaraksy , Mona Fathy |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | فى الاطفال المصابين بمرض ركود العصارة الصفراوية العائلي التقدمي داخل الكبد MDR3 التحور الجينى للجين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Nora Hassan Radwan Mahmoud , |
| Date of publication, distribution, etc. | 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 110 P. : |
| Other physical details | charts , facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Aim of the work: The aim of this study was to estimate the frequency of mutations in exons 6, 8 and 9 of the MDR3 (ABCB4) gene among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase (Þ-GT) activity. Subjects and Methods: This cross sectional study was conducted on 30 Egyptian children with PFIC3. Genotyping of the MDR3 (ABCB4) gene was performed by DNA extraction followed by PCR amplification, purification then sequencing analysis of exons 6, 8 and exon 9 of the MDR3 gene.Results: The study revealed no mutations in sequence of exons 6, 8 and 9 of the MDR3 gene. Heterozygous single nucleotide polymorphisms (SNPs) were detected in exon 6 (rs 1202283) and exon 8 (rs 2109505).Conclusion: The study detected no disease causing mutations involving exons 6, 8 and 9 of MDR3 (ABCB4) gene among the studied 30 Egyptian children with PFIC3 and high GGT and detected only single nucleotide variation in exons 6 and 8 |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | ABCB4 transporter |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | MDR3 gene |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanaa Alkaraksy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manal Kamal , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mona Fathy , |
| Relator term | |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Enas |
| 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.M.Sc.2015.No.M | 01010110067030000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.M.Sc.2015.No.M | 01020110067030000 | 22.09.2023 | CD - Rom | 67030.CD |