Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

doi:10.1002/(SICI)1096-8628(19960809)64:2<283::AID-AJMG10>3.0.CO;2-B

Article

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

American journal of medical genetics - 9 Aug 1996

Grasso M, Perroni L, Dagna-Bricarelli F, Rinaldi A, Robledo R, Siniscalco M, Filippi G

Abstract excerpt

This report complements a series of clinical, cytogenetical, and psychological studies previously reported on a large Sardinian pedigree segregating for premutations and full mutations associated with the Martin-Bell syndrome (MBS). Using the StB12.3 probe, we report now the molecular classification of all of the critical members of the pedigree. These molecular findings are evaluated against the variable...

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Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe.

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