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Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Sixty two females at 50% carrier risk were assessed from 19 families affected by X linked ocular albinism (OA1). Twenty nine (47%) had definite fundus changes of the carrier state with a mud splattered fundus appearance and 23 (37%) had a normal ophthalmic examination. Ten (16%) had mild peripheral...

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Autors principals: Charles, S J, Moore, A T, Zhang, Y, McMahon, R, Barton, D E, Yates, J R
Format: Artigo
Idioma:Inglês
Publicat: 1994
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC504859/
https://ncbi.nlm.nih.gov/pubmed/7918264
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