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Expansions of trinucleotide repeats within gene transcripts are responsible for fragile X syndrome, myotonic dystrophy and spinal and bulbar muscular atrophy. To identify other human genes with similar features as candidates for triplet repeat expansion mutations, we screened human cDNA libraries with repeat probes and searched databases for transcribed genes with repeats. From both strategies, 40 genes were identified and 14 characterized. Five were found to contain repeats which are highly polymorphic including the N-cadherin, BCR, glutathione-S-transferase and Na+/K+ ATPase (beta-subunit) genes. These data demonstrate the occurrence of other human loci which may undergo this novel mechanism of mutagenesis giving rise to genetic disease.
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
October 1995,
Human genetics,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
July 1995,
Somatic cell and molecular genetics,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
June 1997,
Nucleic acids research,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
January 2008,
Trends in genetics : TIG,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
January 2004,
Journal of medical genetics,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
July 2010,
Nucleic acids research,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
February 1996,
Diabetes,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
August 2001,
BioTechniques,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
September 1997,
Annals of human genetics,
G J Riggins, and
L K Lokey, and
J L Chastain, and
H A Leiner, and
S L Sherman, and
K D Wilkinson, and
S T Warren
March 2000,
Genetics,
