title: A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats.
authors.forename: C
authors.initials: C
authors.lastname: Strassel
authors.forename: M-C
authors.initials: MC
authors.lastname: Alessi
authors.forename: I
authors.initials: I
authors.lastname: Juhan-Vague
authors.forename: J-P
authors.initials: JP
authors.lastname: Cazenave
authors.forename: F
authors.initials: F
authors.lastname: Lanza
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; D019038:Platelet Glycoprotein GPIb-IX Complex; D004247:DNA