Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure

Human Molecular Genetics

Volumn 5, Issue 10, 1996, Pages 1657-1661

  Pomponio, Robert J ^a   Narasimhan, Vasant ^a   Reynolds, Thomas R ^a   Buck, Gregory A ^a   Povirk, Lawrence F ^a   Wolf, Barry ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCYTIN; BIOTIN; BIOTINIDASE; CARBOXYLASE; DNA DIRECTED DNA POLYMERASE ALPHA; PALINDROMIC DNA;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA REPLICATION; ENZYME DEFICIENCY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0029795308     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1657     Document Type: Article

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