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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| Autores principales: | , , , , , |
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| Formato: | article |
| Lenguaje: | RU |
| Publicado: |
SPb RAACI
2020
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/979ddc913ffe41a989d3c485bc7ca3b7 |
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