Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

Human Genetics

Volumn 99, Issue 4, 1997, Pages 506-512

  Pomponio, Robert J ^a   Norrgard, Karen J ^a   Hymes, Jeanne ^a   Reynolds, Thomas R ^a   Buck, Gregory A ^a   Baumgartner, Regula ^b   Suormala, Terttu ^b   Wolf, Barry ^a  

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

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BIOTIN; BIOTINIDASE; CYSTEINE; DINUCLEOTIDE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; ENZYME DEFICIENCY; EXON; HOMOZYGOSITY; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RECYCLING;

ACYLTRANSFERASES; ALLELES; AMIDOHYDROLASES; ANTIBODIES; ARGININE; AUTOMATION; BIOTIN; BIOTINIDASE; CELLS, CULTURED; CHILD; CYSTEINE; DINUCLEOSIDE PHOSPHATES; DNA; EXONS; FEMALE; FIBROBLASTS; HUMANS; MALE; PEDIGREE; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 0031001357     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050397     Document Type: Article

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