Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 479, Issue 1-2, 2001, Pages 173-186

  Dasgupta, Chiranjib ^a,b   Martinez, Anna Marie ^a,b   Zuppan, Craig W ^a   Shah, Maithili M ^a,b   Bailey, Leonard L ^a   Fletcher, William H ^a,b  

^a LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Jerry L Pettis Memorial VA Medical Center   (United States)

Author keywords

Congenital heart defects; connexin43; DGGE; Gap junctions; Hypoplastic left heart syndrome; Pseudogene

Indexed keywords

ARGININE; CONNEXIN 43; CYCLIC AMP DEPENDENT PROTEIN KINASE; DNA; GLUTAMINE; PROTEIN KINASE C; FORMAMIDE; FORMAMIDE DERIVATIVE; PEPTIDE; UREA;

5' UNTRANSLATED REGION; ALLELE; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; GAP JUNCTION; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PSEUDOGENE; CELL JUNCTION; CHEMISTRY; CHILD; FEMALE; GENETICS; MALE; METHODOLOGY; MOLECULAR GENETICS; MUTATION; PHOSPHORYLATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN TERTIARY STRUCTURE; SINGLE BLIND PROCEDURE; TEMPERATURE; TIME;

ANURA;

BASE SEQUENCE; CHILD; CODON; CONNEXIN 43; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FORMAMIDES; GAP JUNCTIONS; HEART TRANSPLANTATION; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEPTIDES; PHOSPHORYLATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINATION, GENETIC; SINGLE-BLIND METHOD; TEMPERATURE; TIME FACTORS; UREA;

EID: 0035828196     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00160-9     Document Type: Article

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