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First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Menkes disease is an X linked recessive disorder of copper metabolism characterised by neurological symptoms and connective tissue manifestations. The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. The diagnosis of Me...

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Autores principales: Tümer, Z, Tønnesen, T, Böhmann, J, Marg, W, Horn, N
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050022/
https://ncbi.nlm.nih.gov/pubmed/7815418
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