Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome
المؤلفون المشاركون
Wang, Zhendong
Jiang, Baichun
Jin, Shiqi
Hu, Zhao
Liu, Guangyi
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-11-11
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Alport syndrome (AS) is a hereditary nephropathy which is characterized by molecular abnormalities in collagen IV.
Here, we report compound mutations of the COL4A3 gene including a novel allele identified in a patient with Alport syndrome.
The patient was a 25-year-old Chinese woman.
She has a history of proteinuria and hematuria with cleft lip and palate.
The pathologic results were consistent with Alport syndrome.
The patient received ACEI treatment but did not respond well to the treatment.
Sequencing results revealed that the patient carried two heterozygous mutations in the COL4A3 gene, including a known mutation (c.4243G>C, p.G1415R), which was inherited from her father, and a previously undescribed allele (c.4216G>A, p.G1406R) inherited from her mother.
To date, at least 294 different variants of COL4A3 have been reported according to the Human Gene Mutation Database (HGMD).
Identification of c.4216G>A as a new AS-related mutation may contribute to both genetic diagnosis of AS and further functional study of COL4A3.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wang, Zhendong& Jiang, Baichun& Jin, Shiqi& Hu, Zhao& Liu, Guangyi. 2020. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wang, Zhendong…[et al.]. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wang, Zhendong& Jiang, Baichun& Jin, Shiqi& Hu, Zhao& Liu, Guangyi. Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1131768
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1131768
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر