Table 1. .

Summary of RPS24 Mutations in Patients with DBA^[Note]

Patient	Inheritance	No. of Family Members with Mutation	DNA Mutation	Exon or Intron	RNA Change	Predicted Protein Change
D1	Familial	5	c.316C→T	Exon 4	r.316c→u	Gln106STOP
D2	Sporadic	1	c.46C→T	Exon 2	r.46c→u	Arg16STOP
D3	Familial	2	c.4–14delGTTTATGTTTTCAG; c.4_6delACC/insTACGGATAG	Intron 1/Exon 2	r.4_69del (skipped exon 2)	Del 22 aa (N1_M2del)

Note.— Primer sequences and amplification conditions are available on request. Del = deletion.