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Molecular characterization of phenylketonuria mutation patterns in Egyptian patients / (Record no. 29058)

MARC details
000 -LEADER
fixed length control field 01788cam a2200349 a 4500
003 - CONTROL NUMBER IDENTIFIER
control field EG-GiCUC
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250223030153.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 100113s2009 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 Cai01.08.01.M.Sc.2009.Mo.M
100 0# - MAIN ENTRY--PERSONAL NAME
Personal name Mohamed Abdelhamid Elsayed Mohamed
245 10 - TITLE STATEMENT
Title Molecular characterization of phenylketonuria mutation patterns in Egyptian patients /
Statement of responsibility, etc. Mohamed Abdelhamid Elsayed Mohamed ; Supervised Adel Ali Kheir Eldin , Laila Kamal Effatt
246 15 - VARYING FORM OF TITLE
Title proper/short title التميز الجزيئى لأنماط طفرة الفينيل كيتونيوريا فى المرضى المصريين
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Place of publication, distribution, etc. Cairo :
Name of publisher, distributor, etc. Mohamed Abdelhamid Elsayed Mohamed ,
Date of publication, distribution, etc. 2009
300 ## - PHYSICAL DESCRIPTION
Extent 134Leaves :
Other physical details charts , facsimiles ;
Dimensions 25cm
502 ## - DISSERTATION NOTE
Dissertation note Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry
520 ## - SUMMARY, ETC.
Summary, etc. The present study was designed to analyze the phenylalanine hydroxylase (PAH) gene in 50 unrelated patients with phenylketonuria (PKU) to characterize the different mutations and polymorphisms that delineate the molecular genetic background of the disease in Egypt. It also aimed at providing a simple and cost - effective method for detecting the R176X mutation in exon 6. DNA was extracted from all patients using a standard procedure
530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE
Additional physical form available note Issued also as CD
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Molecular characterization
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Phenylalanine hydroxylase gene
653 #4 - INDEX TERM--UNCONTROLLED
Uncontrolled term Phenylketonuria
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Adel Ali Kheir Eldin ,
Relator term
700 0# - ADDED ENTRY--PERSONAL NAME
Personal name Laila Kamal Effatt ,
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>
902 ## - LOCAL DATA ELEMENT B, LDB (RLIN)
No. of Items 1
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
Holdings
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 Cai01.08.01.M.Sc.2009.Mo.M 01010110052389000 22.09.2023 Thesis  
Dewey Decimal Classification   المكتبة المركزبة الجديدة - جامعة القاهرة مخـــزن الرســائل الجـــامعية - البدروم 11.02.2024 Cai01.08.01.M.Sc.2009.Mo.M 01020110052389000 22.09.2023 CD - Rom 52389.CD