Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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The metabolic basis of inherited disease

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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

Peter N. Meissner, Tamara A. Dailey, Richard Hift et al. · Nature Genetics · 1996 · 216 citations

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