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Table 2 SFTPC and ABCA3 genetic analysis

From: A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

 

SFTPC gene*

SFTPC gene*

ABCA3

c.413C > A (rs4715)

c.557 G > A (rs1124)

2891 G > A

Exon 4

Exon 5

Exon 21

Proband

CA

AA

AA

Mother

CC

GA

GA

Father

CA

GA

GA

Sister 1

CC

GA

GA

Sister 2

CA

GA

GA

Patient B

CC

GA

AA

Patient C

CC

GA

AA

  1. *Common non-synonymous SFTPC polymorphisms:C/A at rs4715 yields Thr138Asn; G/A at rs1124 yields Ser186Asn.
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Respiratory Research

ISSN: 1465-993X

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