Document Detail

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
MedLine Citation:
PMID:  11559849     Owner:  NLM     Status:  MEDLINE    
Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomal recessive CL/P syndrome on Margarita Island, CLPED1 (ref. 1). Here we demonstrate highly significant association between heterozygosity for this mutation and sporadic, non-syndromic CL/P in northern Venezuela.
M A Sözen; K Suzuki; M M Tolarova; T Bustos; J E Fernández Iglesias; R A Spritz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  29     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2001 Oct 
Date Detail:
Created Date:  2001-10-04     Completed Date:  2001-12-04     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  141-2     Citation Subset:  IM    
Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
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MeSH Terms
Cell Adhesion Molecules / genetics*
Cleft Lip / genetics*
Cleft Palate / genetics*
Codon, Nonsense*
Grant Support
Reg. No./Substance:
0/Cell Adhesion Molecules; 0/Codon, Nonsense; 0/nectins

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