Table 4 Salient Features of R834C-WRN Homozygotes.

From: Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype

ID

Gender

Ametropia

%Helicase Activity 1

Replication Phenotype 2

1401

M

Yes

13

1.6

1402

F

No

11

2.1

1903

M

Yes

15

1.1

2604

M

Yes

20

0.54

3104

M

Yes

ND

ND

3304

M

Yes

16

0.94

6701

M

Yes

ND

ND

6712

M

Yes

ND

ND

6801

M

Yes

ND

ND

7303

M

Yes

ND

ND

7309

M

Yes

ND

ND

7502

M

Yes

ND

ND

7508

F

No

ND

ND

  1. 1Normalized to within-pedigree wild type control activity, which is set at 100%.
  2. 2Numbers refer to the ratio of mean IdU/EdU replication track length ratios in the presence or absence of HU in homozygous cells compared to within-pedigree wild type control cells.
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