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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
eISSN:
1311-0160
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medicine, Basic Medical Science, other