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Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina
Neurofibromatosis tipo I. Mutación de splicing detectada por MLPA y secuenciación en la Argentina
2015
Medicina (Buenos Aires)
Neurofibromatosis tipo I. Mutación de splicing detectada por MLPA y secuenciación en la Argentina
Neurofibromatosis type 1 (NF1) is a dominant autosomic genetic disorder, with a birth incidence of 1 in 2500-3000. Diagnosis is difficult because of the size of gene NF1 that has few hot-spots sites, the absence of a clear genotype-phenotype relation, and a heterogeneous clinical manifestation. A NF1 suspected case from Jujuy province was analyzed by multiplex ligation-dependent probe amplification (MLPA). Mestizo female teenage (Amerindian/European), with a maxilar osteoma, lumbar lordosis,
pmid:25919870
fatcat:c4u3n4xe4rbapoohhyr3agm5pu