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Number of results
1996 | 37 | 2 | 205-215

Article title

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene.

Title variants

Languages of publication

EN

Abstracts

EN
Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation.Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found.Possible explanations of this result are discussed.With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation.No such difference appeared when affected and normal females with full mutation were compared.The proportion of mutated active X chromosome was significantly higher in mentally retarded females than those without any mantal impairment.

Discipline

Year

Volume

37

Issue

2

Pages

205-215

Physical description

Contributors

author
author
author
author
author

References

Document Type

article

Publication order reference

M.Milewski

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-45f8f7da-120d-31e3-b3c6-3c61e431c6ae
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