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Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

11 Mar 2010

Abstract excerpt

A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of...

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PMID: 21637472
DOI: 10.1590/s1415-47572010005000020

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