Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Feras Hantash,Dana Goos,David Tsao,Franklin Quan,Arlene M. Buller-Burckle,Mei Peng,Michael Jarvis,Weimin Sun,Charles M. Strom

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

2010

Feras Hantash
Dana Goos
David Tsao
Franklin Quan
Arlene M. Buller-Burckle
Mei Peng
Michael Jarvis
Weimin Sun
Charles M. Strom

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

Keywords:

Genetics
Fragile X syndrome
Triplet repeat
Newborn screening
Premutation+full mutation
Mutation
Biology
FMR1
Molecular biology
Polymerase chain reaction
Southern blot
Amplicon
Allele
Trinucleotide repeat expansion
Genotype

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