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Article

Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.

The New Zealand medical journal - 13 Oct 1995

Neville L, Cochrane J, Fitzgerald P, Kennedy M

Abstract excerpt

AIMS: To establish a DNA-based test for the diagnosis and carrier detection of fragile X syndrome, and to investigate the nature of the mutation and patterns of inheritance in New Zealand families. METHODS: A probe for the FRAXA region was generated by polymerase chain reaction, cloned in a plasmid vector, and its structure was confirmed by DNA sequencing. This probe was used in a Southern blot assay to detect...

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PMID: 7478333

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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