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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2011-3-24
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pubmed:abstractText |
Fragile X syndrome is one of the X-linked disorders associated with moderate to severe mental retardation. Fragile X A syndrome (FRAXA) and fragile X E syndrome (FRAXE) are caused by trinucleotide repeat expansion of CGG and GCC repeats at the 5' untranslated region of the FMR1 and FMR2 genes, respectively. The present study was undertaken to identify the repeat polymorphism and to estimate the risk of transmission in Andhra Pradesh and surrounding states of South India.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1945-0257
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
281-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:21254876-Alleles,
pubmed-meshheading:21254876-Chromosomes, Human, X,
pubmed-meshheading:21254876-Ethnic Groups,
pubmed-meshheading:21254876-European Continental Ancestry Group,
pubmed-meshheading:21254876-Female,
pubmed-meshheading:21254876-Fragile X Mental Retardation Protein,
pubmed-meshheading:21254876-Fragile X Syndrome,
pubmed-meshheading:21254876-Gene Frequency,
pubmed-meshheading:21254876-Humans,
pubmed-meshheading:21254876-India,
pubmed-meshheading:21254876-Intellectual Disability,
pubmed-meshheading:21254876-Male,
pubmed-meshheading:21254876-Nuclear Proteins,
pubmed-meshheading:21254876-Polymerase Chain Reaction,
pubmed-meshheading:21254876-Polymorphism, Genetic,
pubmed-meshheading:21254876-Trinucleotide Repeat Expansion,
pubmed-meshheading:21254876-Trinucleotide Repeats
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pubmed:year |
2011
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pubmed:articleTitle |
Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
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pubmed:affiliation |
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Andhra Pradesh, India.
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pubmed:publicationType |
Journal Article
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