Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Girardet
A
A
Guittard
C
C
Altieri
J-P
JP
Templin
C
C
Stremler
N
N
Beroud
C
C
des Georges
M
M
Claustres
M
M
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007077:Ileal Diseases / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000235:genetics / Q000473:pathology; D008470:Meconium / Q000378:metabolism; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D015997:Neonatal Screening; D014362:Trypsinogen / Q000737:chemistry / Q000378:metabolism
D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen