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Table 1 The MLPA probe copy numbers of SMA-related genes in 42 Chinese SMA patients

From: Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

  

MLPA probe copy number

 

Total

SMN1/SMN2

SMN1

SMN2

NAIP

Group

N = 42

Exon1

Exon4

Exon6

Exon8

Exon7

Exon8

Exon7

Exon8

Exon13

Exon5

1

3(7.1%)

2

2

2

2

0

0

2

2

1

1

2

3(7.1%)

2

2

2

2

0

0

2

2

1

0

3

1(2.4%)

2

2

2

2

0

1

2

1

1

0

4

1(2.4%)

2

2

2

2

0

0

2

2

2

1

5

1(2.4%)

3

3

3-4

3

0

0

3

3

2

1

6

1(2.4%)

3

3

3-4

3

0

0

3

3

2

2

7

4(9.5%)

3

3

3

3-4

0

0

3

3

2

2

8

2(4.8%)

4

4

4

4

0

0

4

4

2

2

9

1(2.4%)

3

3-4

3

3

0

1

2

2

2

1

10

2(4.8%)

3

3-4

3-4

3

0

0

2

3

2

2

11

9(21.3%)

3

3-4

3

3-4

0

0

3

3

2

1

12

6(14.2%)

3

3

3

3

0

0

3

3

1

1

13

1(2.4%)

3

3

3

3

0

1

3

2

1

1

14

1(2.4%)

2

2

2

2

0

1

2

1

1

1

15

1(2.4%)

2-3

2-3

3

4

0

0

3

4

2

2

16

2(4.8%)

2-3

3

3

3-4

0

0

3

4

2

1

17

2(4.8%)

1-2

2

2

2

0

0

2

2-3

2

2

18

1(2.4%)

2-3

2-3

3

3

0

1

3

2

2

1