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

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 (Brazilia...

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Detalhes bibliográficos
Main Authors: Santos, Silvana, Kok, Fernando, Weller, Mathias, de Paiva, Francisco Rennan Lopes, Otto, Paulo A.
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Genética 2010
Assuntos:
Human and Medical Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3036858/
https://ncbi.nlm.nih.gov/pubmed/21637472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572010005000020
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