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Article

Improved characterization of FSHD mutations.

Annales de genetique - 1 Jan 2000

Zhang Y, Forner J, Fournet S, Jeanpierre M

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the shortest alleles of the 3.3kb-tandem repeat array D4Z4 at 4q35. Molecular diagnosis of FSHD depends upon the separation of unusually large alleles by pulse-field electrophoresis after EcoRI and EcoRI/BlnI digestion. The exact number of alleles could not however be directly inferred from the size of DNA fragments owing to polymorphisms in the telomeric...

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Source

Identifiers

PMID: 11522250
DOI: 10.1016/s0003-3995(01)01075-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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