Document Detail

Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
MedLine Citation:
PMID:  9155619     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To determine the frequency of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. DESIGN: Mutation screening of the terminal 200 base pairs of connexin43 gene coding sequence in a series of patients from tertiary care centres. PATIENTS: 48 patients with visceroatrial heterotaxy attending UK Regional Paediatric Cardiology Centres. RESULTS: No changes from the published connexin43 consensus sequence were found in any of the 48 patients studied. CONCLUSIONS: Germline mutations of the phosphorylation sites in teh regulatory domain of the connexin43 gene are rare in patients with visceroatrial heterotaxy.
M Penman Splitt; M Y Tsai; J Burn; J A Goodship
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Heart (British Cardiac Society)     Volume:  77     ISSN:  1355-6037     ISO Abbreviation:  Heart     Publication Date:  1997 Apr 
Date Detail:
Created Date:  1997-06-04     Completed Date:  1997-06-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  9602087     Medline TA:  Heart     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  369-70     Citation Subset:  AIM; IM    
Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
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MeSH Terms
Base Sequence
Connexin 43 / genetics*
Genes, Regulator*
Germ-Line Mutation*
Heart Defects, Congenital / genetics*
Molecular Sequence Data
Polymerase Chain Reaction
Sequence Analysis, DNA
Reg. No./Substance:
0/Connexin 43

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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