Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L)
Cartault
F
F
Steffann
J
J
Vidaud
D
D
Bousquet
S
S
Lesure
F
F
Renouil
M
M
McDonell
N
N
Feingold
J
J
Beldjord
C
C
Bienvenu
T
T
D000409:Alanine / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005602:France; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D012694:Serine / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D012694:Serine; D007930:Leucine; D000409:Alanine; D005998:Glycine