Patient | MLPA (exons) | Mutant transcripts (NM_000059)* | Mutation designation (AY436640) | |||
---|---|---|---|---|---|---|
*Numbers between brackets correspond to GenBank sequence accession numbers. | ||||||
†Exons partially deleted. | ||||||
MLPA, multiplex ligation dependent probe amplification. | ||||||
B36 | 17–18 | c.8034_8715 ter 2635 (del. ex. 17–19) | g.45138_55975del10838 (del. ex. 17–18) | |||
B407 | 8–11a | c.824_6768 ter206 (del. ex. 7–11)† | g.12323_26644del14322 (del. ex. 7–11)† | |||
B568 | 20 | c.8716_8860 ter2842 (del ex. 20) | g.56447_61399del4953 (del. ex. 20) |