Structure of the human biotinidase gene

[1]  G. Buck,et al.  Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. , 1997, Biochemical and molecular medicine.

[2]  H. Mandel,et al.  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. , 1997, Human molecular genetics.

[3]  T. Suormala,et al.  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 , 1997, Human Genetics.

[4]  G. Buck,et al.  Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. , 1996, Human molecular genetics.

[5]  K. Roux,et al.  High and low annealing temperatures increase both specificity and yield in touchdown and stepdown PCR. , 1996, BioTechniques.

[6]  S. Weremowicz,et al.  Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. , 1994, Genomics.

[7]  G. Buck,et al.  Human serum biotinidase. cDNA cloning, sequence, and characterization. , 1994, The Journal of biological chemistry.

[8]  T. Grange,et al.  Cell-type specific activity of two glucocorticoid responsive units of rat tyrosine aminotransferase gene is associated with multiple binding sites for C/EBP and a novel liver-specific nuclear factor , 1991, Nucleic Acids Res..

[9]  D. Baltimore,et al.  The “initiator” as a transcription control element , 1989, Cell.

[10]  H. Gallinaro,et al.  The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA. , 1989, Nucleic acids research.

[11]  A. Bird.  CpG-rich islands and the function of DNA methylation , 1986, Nature.

[12]  B. Wolf,et al.  Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. , 1983, Clinica chimica acta; international journal of clinical chemistry.

[13]  D Perlman,et al.  A putative signal peptidase recognition site and sequence in eukaryotic and prokaryotic signal peptides. , 1983, Journal of molecular biology.

[14]  G. Feldman,et al.  The biotin-dependent carboxylase deficiencies. , 1982, American journal of human genetics.

[15]  G. Buck,et al.  Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States , 1998 .

[16]  Gregory A. Buck,et al.  Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency , 1995, Nature Genetics.

[17]  J. Pispa.  Animal biotinidase. , 1965, Annales medicinae experimentalis et biologiae Fenniae.