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Journal article

Molecular analysis of the fragile X syndrome.

Abstract:
Carriers of the fragile X mutation possess more than the normal number of copies of a trinucleotide repeat (CGG) within the coding region of a gene designated as FMR-1 in Xq27. The clinical phenotype is determined by the number of copies of the CGG repeat. DNA-based methods for the detection of the fragile X mutation are now available which greatly assist in the genetic diagnosis of this disorder. Direct detection of the mutation enables the identification of fragile X negative normal transmitting males and fragile X negative carrier females.

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Disease markers More from this journal
Volume:
10
Issue:
1
Pages:
1-5
Publication date:
1992-01-01
EISSN:
1875-8630
ISSN:
0278-0240
Language:
English
Keywords:
Pubs id:
pubs:32489
UUID:
uuid:064bd9fb-8fc2-491a-bbec-8109d1ea6890
Local pid:
pubs:32489
Source identifiers:
32489
Deposit date:
2013-02-20

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