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- W2032039522 abstract "Achondroplasia is the most common form of human skeletal dysplasia, with an incidence between 1/15.000-1/77.000. It is a dominant autosomic disorder, with complete penetrance and with more than 80% of the cases result from sporadic and recurrent mutations, associated with increased paternal age. Recently, a missense mutation (G380R) located in the transmembrane domain of the FGFR3 was found to account for more than 95% of patients studied. In order to characterize the mutations involve in this dysplasia in an Argentine Achondroplastic population, 21 sporadic cases and 2 unrelated familial forms were randomly selected from 80 patients followed up in our Hospital. The patients showed the typical physical and radiological features of this dysplasia. The GA transition (responsible for 98% of the G380R substitutions) was analyzed by PCR of exon 10 and allele specific oligonucleotide hybridization using the following primers: Nor: 5′-AGCCCACCCCGTAGCTGAG-3′; Mut: 5′. CTCAGCTACAGGGTGGGCTT-3′. This mutation was present in 21 of 23 chromosomes studied. The other 2 chromosomes were positive for N540K substitution, previously associated with Hypochondroplasia. The prevalence of G380R (95.5%) found in our achondroplastic population was in agreement with previous reports regarding other populations. The presence of N540K mutation in patients with achondroplastic fenotype shows a wide range of fenotypic variability associated with this substitution." @default.
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- W2032039522 date "1998-11-01" @default.
- W2032039522 modified "2023-09-26" @default.
- W2032039522 title "Molecular Study of Argentine Achondroplastic Patients" @default.
- W2032039522 doi "https://doi.org/10.1203/00006450-199811000-00032" @default.
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