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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene

Ana Novo1, Isabel Couto Guerra, Felisbela Rocha

  • 1Department of Paediatrics, Centro Hospitalar do Porto, Porto, Portugal. anocas.novo@gmail.com

BMJ Case Reports
|July 4, 2012
PubMed

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Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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