Concepedia

Anna V. Abrukova

AV

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Publications

5

Citations

310

H-Index

5

Active since

2006

Affiliations

Chuvash State University(Current)

Research Centre for Medical Genetics

Ministry of Health of the Russian Federation

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Anna V. Abrukova is an author at Chuvash State University specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2006–2021

5

Publications

5

Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i>

Andrey Goltsov, Anastasia P. Grigorenko, Anna V. Abrukova et al. · Science · 2006 · 199 citations

, , +11

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

E. A. Bliznetz, Svetlana Tverskaya, Anna V. Abrukova et al. · European Journal of Human Genetics · 2009 · 43 citations · Full text

, , +7

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

Nikolay V. Zernov, Mikhail Skoblov, Andrey V. Marakhonov et al. · Journal of Investigative Dermatology · 2016 · 38 citations

, , +4

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

Anna V. Abrukova, Ekaterina N Savaskina, A. V. Polyakov · Russian Journal of Genetics · 2012 · 16 citations

Genetic Variant c.245A&gt;G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Andrey V. Marakhonov, Natalia Balinova, Anna V. Abrukova et al. · Genes · 2021 · 14 citations · Full text

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