Table 1 CFTR gene mutations in Italian sarcoidosis patients

From: Comment on ‘CFTR gene mutations in sarcoidosis’

 

No. of patients

Missense and splicing mutations

(a)

1

D513G

 

1

R31C

 

1

G576A-R668C (d)

 

3

IVS85T

 

13

––

(b)

1

R347P

 

1

R75Q, 1898+3 A/G (e)

 

2

R75Q

 

1

621+3 A/G

 

1

1991V

 

1

L997F

 

1

G1069R

 

2

IVS85T

 

16

––

(c)

1

DF508

 

1

L997F

 

1

V754M

 

1

E826K

 

1

4382delA

 

3

––

Total

53

21

  1. (a) present report, 19 patients.
  2. (b) Bombieri et al,2 26 patients.
  3. (c) Bombieri et al,3 eight patients.
  4. –– : No mutation found.
  5. (d) -: Mutation in the same allele.
  6. (e) -: Phase unknown.
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