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Table 3 MLPA abnormalities in 62 unrelated families

From: Neurofibromatosis type 2 (NF2): A clinical and molecular review

MLPA abnormality Number of occasions (mosaic)
Exon 1-intron1 (deletes intronic CA repeat) 18 (3)
Whole gene (exons 1–17) deletion 16 (2)
Exons 5–17 deletion 3 (2)
Exons 2–3 deletion 2
Exons 2–10 deletion 2
Exons 13–15 deletion 1
Exons 1–16 deletion 2 (1)
Exons 1–10 deletion 3 (1)
Exons 1–3 deletion 1
Exons 1–4 deletion 2 (1)
Exons 1–2 deletion 1 (1)
Exons 15–17 deletion 1
Exons 8–17 deletion 1
Exons 8–15 deletion 1
Exon 3 deletion 1
Exon 7 deletion 1
Exon 5 deletion 1
Exons 12–14 duplication 1
Exons 10–16 duplication 1
Exon 2 deletion 1
Exon 8 deletion 1
Exons 2–4 deletion 1
  1. MLPA- Multiplex Ligation-dependant Probe Amplification