Journal article icon

Journal article

Molecular heterogeneity of the fragile X syndrome.

Abstract:

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation than affected individuals. We have cloned the region in cosmids and defined the area containing the amplified sequence. We have used probes from the region to analyse the mutation in families. We show...

Expand abstract

Actions


Access Document


Publisher copy:
10.1093/nar/19.16.4355

Authors


Nakahori, Y More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Holland, J More by this author
Schwartz, C More by this author
Expand authors...
Journal:
Nucleic acids research
Volume:
19
Issue:
16
Pages:
4355-4359
Publication date:
1991-08-05
DOI:
EISSN:
1362-4962
ISSN:
0305-1048
URN:
uuid:b9870655-9d00-4b04-b554-2b680d2b3ad0
Source identifiers:
34420
Local pid:
pubs:34420

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP