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Methanol/acetone treatment helps the amplification of FMR1 CGG repeat fragment in dried blood spots from Guthrie cards.
- Source :
-
Lancet . 4/3/1999, Vol. 353 Issue 9159, p1153-1154. 2p. 1 Black and White Photograph. - Publication Year :
- 1999
-
Abstract
- Presents research which developed a method for the identification of fragile X syndrome. The syndrome causing intellectual disability resulting from an absence of the protein FMR1; Populations affected by the condition; Cytogenic findings; Methods and results; Screening for male fragile X syndrome using Guthrie dried blood-spot samples.
- Subjects :
- *DIAGNOSIS of fragile X syndrome
*HUMAN chromosome abnormality diagnosis
*PROTEINS
*INTELLECTUAL disabilities
*ETIOLOGY of diseases
*PHYSIOLOGY
*DNA
*FRAGILE X syndrome
*KETONES
*METHANOL
*NERVE tissue proteins
*POLYMERASE chain reaction
*SOLVENTS
*GENETIC testing
*PILOT projects
RESEARCH evaluation
Subjects
Details
- Language :
- English
- ISSN :
- 01406736
- Volume :
- 353
- Issue :
- 9159
- Database :
- Academic Search Index
- Journal :
- Lancet
- Publication Type :
- Academic Journal
- Accession number :
- 1711573
- Full Text :
- https://doi.org/10.1016/S0140-6736(99)00172-5