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A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.

Acheiropodia is an autosomal recessive disease that results in hemimelia (lack of formation of the distal extremities). We performed a complete genome screen of seven members of an extended pedigree that included three siblings with acheiropodia. Homozygosity mapping was used to identify regions mos...

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Detalhes bibliográficos
Main Authors: Escamilla, M A, DeMille, M C, Benavides, E, Roche, E, Almasy, L, Pittman, S, Hauser, J, Lew, D F, Freimer, N B, Whittle, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378047/
https://ncbi.nlm.nih.gov/pubmed/10780921
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