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Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

S Fustik

S Fustik

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Fustik, S
, 
V Anastasovska

V Anastasovska

Department for Neonatal Screening, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Anastasovska, V
, 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Plaseska-Karanfilska, D
, 
A Stamatova

A Stamatova

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Stamatova, A
, 
L Spirevska

L Spirevska

Department for Cystic Fibrosis, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Spirevska, L
, 
M Pesevska

M Pesevska

Department for Neonatal Screening, University Clinic for Pediatrics, Faculty of Medicine, University “Ss. Cyril and Methodius,”Skopje, Republic of North Macedonia
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Pesevska, M
, 
M Terzikj

M Terzikj

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Terzikj, M
 und 
M Vujovic

M Vujovic

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and ArtsSkopje, Republic of North Macedonia
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Vujovic, M
  
27. Juli 2021
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Artikel-Kategorie: Original Article
Online veröffentlicht: 27. Juli 2021
Seitenbereich: 41 - 46
DOI: https://doi.org/10.2478/bjmg-2021-0015
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© 2021 Fustik S, Anastasovska V, Plaseska-Karanfilska D, Stamatova A, Spirevska L, Pesevska M, Terzikj M, Vujovic M, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Algorithm for CF NBS in the Republic of North Macedonia.
Algorithm for CF NBS in the Republic of North Macedonia.

Genotypes of cystic fibrosis patients diagnosed with newborn screening_

Genotype (legacy name) Genotype (cDNA name) n
F508del/F508del c.1521_1523delCTT/c.1521_1523delCTT 10
F508del/G542X c.1521_1523delCTT/c1624G>T 3
F508del/G1349D c.1521_1523delCTT/c.4046G>A 1
G542X/N1303K c.1624G>T/c.3909C>G 1
N1303K/G126D c.3909C>G/c.377G>A 1
457TAT>G/CFTRdupexon22 c.325_327delTATinsG/CFTRdupexon22a 1
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