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Contribution to carrier detection and genetic counselling in X linked retinoschisis.

X linked retinoschisis (RS) is a vitreoretinal disease resulting from microcystic degeneration of the macula associated with peripheral lesions. The disease gene has already been assigned to the distal short arm of the X chromosome (Xp22.2) by linkage studies. In order to contribute both to a better...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kaplan, J, Pelet, A, Hentati, H, Jeanpierre, M, Briard, M L, Journel, H, Munnich, A, Dufier, J L
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1991
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016902/
https://ncbi.nlm.nih.gov/pubmed/1678432
Etiketak: Etiketa erantsi
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