Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
Steffann
J
J
Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France.
Vidaud
D
D
Bousquet
S
S
Jullien
M
M
Ninot
A
A
Kaplan
J C
JC
Beldjord
C
C
Bienvenu
T
T
D000483:Alleles; D019943:Amino Acid Substitution; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000150:complications*; D008470:Meconium; D020125:Mutation, Missense
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator