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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Detalles Bibliográficos
Autores principales: Santos, Silvana, Kok, Fernando, Weller, Mathias, de Paiva, Francisco Rennan Lopes, Otto, Paulo A.
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036858/
https://www.ncbi.nlm.nih.gov/pubmed/21637472
http://dx.doi.org/10.1590/S1415-47572010005000020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036858/
https://www.ncbi.nlm.nih.gov/pubmed/21637472
http://dx.doi.org/10.1590/S1415-47572010005000020

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