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Author Siddiqa Perween

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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Tasneem Fatima, Syed Aley Hasan Zaidi, Noorjehan Sarfraz, Siddiqa Perween, Faraz Khurshid, Fauzia Imtiaz,

Fragile X syndrome is considered the most common heritable form of X-linked intellectual disability (ID). The syndrome is caused by silencing of the fragile X mental retardation 1 gene (Xq27.3) due to hypermethylation. This mutation results in absence or deficit of its protein product, the fragile X mental retardation protein ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2014, 164A(5):1151-1161]

Cited: 1 time

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