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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Dettagli Bibliografici
Autori principali: Santos, Silvana, Kok, Fernando, Weller, Mathias, de Paiva, Francisco Rennan Lopes, Otto, Paulo A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Sociedade Brasileira de Genética 2010
Soggetti:
Human and Medical Genetics
Accesso online: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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