Prenatal Diagnosis of Oculocutaneous Albinism by Analysis of the Fetal Tyrosinase Gene

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

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The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

RK Saiki, DH Gelfand, Susanne Stoffel et al. · Science · 1988 · 4.3K citations

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

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Inborn Errors of Metabolism

Molecular Therapy · 2001 · 680 citations · Full text

Inborn Errors, Metabolic Disorder, Physiology +6