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Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

Rett syndrome (RS), a progressive encephalopathy with onset in infancy, has been attributed to an X-linked mutation, mainly on the basis of its occurrence almost exclusively in females and its concordance in female MZ twins. The underlying mechanisms proposed are an X-linked dominant mutation with m...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Migeon, B R, Dunn, M A, Thomas, G, Schmeckpeper, B J, Naidu, S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1995
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801188/
https://ncbi.nlm.nih.gov/pubmed/7887418
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