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. 2002 May 15;71(1):22–29. doi: 10.1086/341031

Table 1.

Summary of BBS4 Mutations

Family Mutation 1 Mutation 2 Mutation 3
KK021 IVS3-2A→G IVS3-2A→G
PB043 A364E (BBS4) A364E (BBS4) T558I (BBS2)a
AR153 L327P BBS1? BBS1?
AR708 N165H Unknown Unknown
AR717 S457I Unknown Unknown
a

Although three mutant alleles are listed, the affected individual (PB043-01) in family PB043 carries four potential mutations, since he is homozygous for both A364E and T558I.