Journal article

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

Abstract:: Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.

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APA Style

Flynn, G., Hirst, M., Knight, S., Macpherson, J., Barber, J., Flannery, A., Davies, K., & Buckle, V. (1993). Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. Journal of Medical Genetics, 30(2), 97–100.

MLA Style

Flynn, G., et al. “Identification of the FRAXE Fragile Site in Two Families Ascertained for X Linked Mental Retardation.” Journal of Medical Genetics, vol. 30, no. 2, 1993, pp. 97–100.

Chicago Style

Flynn, G, M Hirst, S Knight, J Macpherson, J Barber, A Flannery, K Davies, and V Buckle. 1993. “Identification of the FRAXE Fragile Site in Two Families Ascertained for X Linked Mental Retardation.” Journal of Medical Genetics 30 (2): 97–100.
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Publisher copy:: 10.1136/jmg.30.2.97

Authors

+ Flynn, G More by this author

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Author

+ Hirst, M More by this author

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Author

+ Knight, S More by this author

Institution:

University of Oxford

Division:

MSD

Department:

NDM

Sub department:

Human Genetics Wt Centre

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Author

+ Macpherson, J More by this author

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+ Barber, J More by this author

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Bibliographic Details

Journal:: Journal of medical genetics More from this journal
Volume:: 30
Issue:: 2
Pages:: 97-100
Publication date:: 1993-02-01
DOI:: 10.1136/jmg.30.2.97
EISSN:: 1468-6244
ISSN:: 0022-2593

Item Description

Language:: English
Keywords:: Humans

Phenotype

Genetic Linkage

Male

Fragile X Syndrome

Chromosome Fragile Sites

Chromosome Fragility

Folic Acid

DNA Mutational Analysis

X Chromosome

DNA Probes

Repetitive Sequences, Nucleic Acid

In Situ Hybridization, Fluorescence

Chromosome Mapping
Pubs id:: pubs:35862
UUID:: uuid:1a894240-43a2-4eea-a13e-5ced9b89dde8
Local pid:: pubs:35862
Source identifiers:: 35862
Deposit date:: 2013-02-20

Terms of use

Copyright date:: 1993

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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