Phenotypic manifestation of homozygous partial deletion of the chromosome 1 segment spanning <i>CFHR3</i> region

Phenotypic manifestation of homozygous partial deletion of the chromosome 1 segment spanning <i>CFHR3</i> region

This article presents two clinical cases of patients with a homozygous deletion of segment of chromosome 1, which covers regions of genes associated with complement factor H, in particular CFHR3. Patients underwent in-depth clinical studies, heredity assessment, laboratory, instrumental and genetic...

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Bibliographic Details
Main Authors: I. A. Tuzankina, M. A. Bolkov, N. S. Zhuravleva, Yu. O. Vaseneva, Kh. Shinvari, O. V. Schipacheva
Format: Article
Language:Russian
Published: SPb RAACI 2020-05-01
Series:Medicinskaâ Immunologiâ
Subjects:
chromosome 1 deletion
cfhr1
cfhr3
hemolytic uremic syndrome
alopecia
complement defects
Online Access:https://www.mimmun.ru/mimmun/article/view/1901

Internet

https://www.mimmun.ru/mimmun/article/view/1901

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