Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 739-745

  Pomponio, Robert J ^a   Reynolds, Thomas R ^a   Mandel, Hanna ^b   Admoni, Osnat ^b   Melone, Pamela D ^a   Buck, Gregory A ^a   Wolf, Barry ^a  

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

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE; COMPLEMENTARY DNA; MESSENGER RNA; MUTANT PROTEIN; SIGNAL PEPTIDE;

ARTICLE; BINDING SITE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME RELEASE; EXON; FEMALE; HUMAN; HUMAN CELL; INFANT; MALE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING;

EID: 0030908328     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.739     Document Type: Article

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