Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance-Reference-Cited by-同舟云学术

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance

Published:2019-05-14 Issue:1 Volume:96 Page:91-97
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Goncharova Maria¹^ORCID,Pshenichnikova Olesya¹,Luchinina Yulia¹,Pustovoit Yaroslav²,Karpova Irina³,Surin Vadim¹

Affiliation:

1. Laboratory of Gene Engineering, National Medical Research Center for Hematology of Ministry of Health Moscow Russia

2. Department of Chemotherapy of Hematological Diseases and Intensive CareNational Medical Research Center for Hematology of Ministry of Health Moscow Russia

3. Biochemical Group of Centralised Clinical Diagnostic LaboratoryNational Medical Research Center for Hematology of Ministry of Health Moscow Russia

Funder

Russian Foundation for Basic Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13558

Reference18 articles.

1. Recommendations for the Diagnosis and Treatment of the Acute Porphyrias

2. Porphyrias

3. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

4. Emerging therapies for acute intermittent porphyria

5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

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1. Acute intermittent porphyria: a disease with low penetrance and high heterogeneity;Frontiers in Genetics;2024-08-12

2. Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient;Frontiers in Genetics;2023-12-19

3. Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review;Frontiers in Genetics;2023-12-11

4. Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function;FEBS Open Bio;2022-09-26

5. Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know;Diagnostics;2022-07-03