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Association between C1q rs631090 gene polymorphism and juvenile systemic lupus erythematosus in Egyptian children: A single centre study / Mary Maher Zaher Botros ; Supervised Samia Salah Eldin Mahmoud , Hala Mohamad Lotfy , Yomna Mohamed Farag

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Mary Maher Zaher Botros , 2021Description: 106 P. : charts , facsimiles ; 25cmOther title:
  • و داء الذئبة الحمراء لدى الأطفال المصريين : C1q rs631090 العلاقة بين تعدد أشكال جين : دراسة مركز واحد [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics Summary: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease. It is characterized by multiple autoantibodies associated with a multisystem illness.C1q deficiency is related strongly to systemic lupus erythematosus (SLE).The aim of this study is to assess and characterize C1q rs 631090 polymorphism in a group of Egyptian children with jSLE and and to investigate the relationship between this polymorphism and phenotypes and damage index.The study included 67 patients diagnosed as having jSLE according to the Systemic Lupus International Collaborating Clinics(SLICC)(Petri et al.,2012) and ACR criteria following up at pediatric rheumatology department, Abu ElResh Hospital, Cairo University and 47controls recruited from outpatient clinic coming for routine investigations.Data was collected from each patient , blood sample collected from all enrolled subjects and the DNA was genotyped forc.187+267T>C(rs631090) showing 35.8% having gene mutation of which 13.4% homozygous mutation C/Cand 22.4% heterozygous mutation C/T while 64.2% patients were wild homozygous T/T
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Item type Current library Home library Call number Copy number Status Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.Ph.D.2021.Ma.A (Browse shelf(Opens below)) Not for loan 01010110084686000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.28.Ph.D.2021.Ma.A (Browse shelf(Opens below)) 84686.CD Not for loan 01020110084686000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease. It is characterized by multiple autoantibodies associated with a multisystem illness.C1q deficiency is related strongly to systemic lupus erythematosus (SLE).The aim of this study is to assess and characterize C1q rs 631090 polymorphism in a group of Egyptian children with jSLE and and to investigate the relationship between this polymorphism and phenotypes and damage index.The study included 67 patients diagnosed as having jSLE according to the Systemic Lupus International Collaborating Clinics(SLICC)(Petri et al.,2012) and ACR criteria following up at pediatric rheumatology department, Abu ElResh Hospital, Cairo University and 47controls recruited from outpatient clinic coming for routine investigations.Data was collected from each patient , blood sample collected from all enrolled subjects and the DNA was genotyped forc.187+267T>C(rs631090) showing 35.8% having gene mutation of which 13.4% homozygous mutation C/Cand 22.4% heterozygous mutation C/T while 64.2% patients were wild homozygous T/T

Issued also as CD

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