Concepedia

Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children

Karen J. Norrgard, Robert J. Pomponio, Jeanne Hymes, Barry Wolf

Pediatric Research · 1999 · 52 citations · 23 references

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23

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

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Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

High and Low Annealing Temperatures Increase Both Specificity and Yield in Touchdown and Stepdown PCR

Karl Hecker, Kenneth H. Roux · BioTechniques · 1996 · 410 citations · Full text

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Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · Clinica Chimica Acta · 1983 · 343 citations

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Phenotypic variation in biotinidase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · The Journal of Pediatrics · 1983 · 196 citations

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