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Table 3 Summary of mutations found in EvC patients from UAE.

From: Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

Case

Gene

DNA change*

Protein Change

Reference

Family 1

EVC2

c.2047-1G>T

splicing

This study

Family 2

EVC

c.1813C>T

p.Q605X

Tompson et al., 2007

Family 3

EVC2

c.981delG

p.K327fs

Tompson et al., 2007

Family 4

-

unknown

NA

This study

  1. *EVC and EVC2 mutations numbering is based on their cDNA sequences of the GenBank accession numbers NM_153717.2 and NM_147127.4 respectively with +1 as the A of the ATG initiation codon.
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BMC Medical Genetics

ISSN: 1471-2350

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