A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats.
Strassel
C
C
Alessi
M-C
MC
Juhan-Vague
I
I
Cazenave
J-P
JP
Lanza
F
F
D000595:Amino Acid Sequence; D001483:Base Sequence; D001606:Bernard-Soulier Syndrome / Q000097:blood* / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009690:Nucleic Acid Conformation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000737:chemistry / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
D018389:Codon, Nonsense; D019038:Platelet Glycoprotein GPIb-IX Complex; D004247:DNA