Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.
Maillet
P
P
Laboratoire de Génétique Moléculaire Humaine (CNRS URA 1171), Institut Pasteur de Lyon, France.
Inoue
T
T
Kanzaki
A
A
Yawata
A
A
Kato
K
K
Baklouti
F
F
Delaunay
J
J
Yawata
Y
Y
D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D004912:Erythrocytes / Q000648:ultrastructure; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010334:Paternity; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013049:Spectrin / Q000235:genetics*
D003062:Codon; D017931:DNA Primers; D013049:Spectrin