Female Fabry disease patients and X-chromosome inactivation

Patrycja Juchniewicz , Anna Kloska , Anna Tylki-Szymańska , Joanna Jakóbkiewicz-Banecka , Grzegorz Węgrzyn , Marta Moskot , Magdalena Gabig-Cimińska , Ewa Piotrowska

Abstract

n/a
Author Patrycja Juchniewicz (FB / DM)
Patrycja Juchniewicz ,,
- Department of Microbiology
, Anna Kloska (FB / DMBG)
Anna Kloska,,
- Katedra Biologii i Genetyki Medycznej
, Anna Tylki-Szymańska - [Instytut Pomnik-Centrum Zdrowia Dziecka]
Anna Tylki-Szymańska,,
-
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, Joanna Jakóbkiewicz-Banecka (FB / DMoB)
Joanna Jakóbkiewicz-Banecka,,
- Department of Molecular Biology
, Grzegorz Węgrzyn (FB / DMoB)
Grzegorz Węgrzyn,,
- Department of Molecular Biology
, Marta Moskot (FB / DMBG) - [Polish Academy of Science]
Marta Moskot,,
- Katedra Biologii i Genetyki Medycznej
- Polska Akademia Nauk
, Magdalena Gabig-Cimińska (FB / DMBG) - [Polish Academy of Science]
Magdalena Gabig-Cimińska,,
- Katedra Biologii i Genetyki Medycznej
- Polska Akademia Nauk
, Ewa Piotrowska (FB / DMoB)
Ewa Piotrowska,,
- Department of Molecular Biology
Journal seriesGene, ISSN 0378-1119, (A 20 pkt)
Issue year2018
Vol641
Pages259-264
Publication size in sheets0.5
Keywords in EnglishFOS-MSSI, Heterozygotes, MSSI, severity score, XCI
ASJC Classification2700 General Medicine; 1311 Genetics
DOIDOI:10.1016/j.gene.2017.10.064
URL https://doi.org/10.1016/j.gene.2017.10.064
Languageen angielski
Score (nominal)20
Score sourcejournalList
ScoreMinisterial score = 20.0, 03-04-2020, ArticleFromJournal
Publication indicators WoS Citations = 6; Scopus Citations = 9; Scopus SNIP (Source Normalised Impact per Paper): 2018 = 0.859; WoS Impact Factor: 2018 = 2.638 (2) - 2018=2.351 (5)
Citation count*14 (2020-03-30)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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