Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (...

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Hauptverfasser: Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1994
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918399/
https://ncbi.nlm.nih.gov/pubmed/7915878
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