T. Reynolds

发表

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

G. Buck, B. Wolf, K. L. Swango, 1998 .

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

G. Buck, B. Wolf, K. L. Swango, 1997, Biochemical and molecular medicine.

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.

H. Mandel, G. Buck, P. Melone, 1997, Human molecular genetics.

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

T. Suormala, G. Buck, B. Wolf, 1997, Human Genetics.

Human serum biotinidase. cDNA cloning, sequence, and characterization.

G. Buck, B. Wolf, J. Hymes, 1994, The Journal of biological chemistry.

Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

G. Buck, B. Wolf, J. Hymes, 1997, Pediatric Research.

Optimization of coupled PCR amplification and cycle sequencing of cloned and genomic DNA.

G. Buck, S. R. Uliana, L. Floeter-Winter, 1993, BioTechniques.

Structure of the human biotinidase gene

G. Buck, Heather Knight, B. Wolf, 1998, Mammalian Genome.

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

G. Buck, L. Povirk, B. Wolf, 1996, Human molecular genetics.

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Gregory A. Buck, Barry Wolf, G. Buck, 1995, Nature Genetics.

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

G. Buck, B. Wolf, K. L. Swango, 1998, Human mutation.

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses

A. Pandya, G. Buck, P. Melone, 1998, Prenatal diagnosis.