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Article

New mutations identified in the ocular albinism type 1 gene.

Gene - 1 Nov 2007

Roma Cristin, Ferrante Paola, Guardiola Ombretta, Ballabio Andrea, Zollo Massimo

Abstract excerpt

As the most common form of ocular albinism, ocular albinism type I (OA1) is an X-linked disorder that has an estimated prevalence of about 1:50,000. We searched for mutations through the human genome sequence draft by direct sequencing on eighteen patients with OA1, both within the coding region and in a thousand base pairs upstream of its start site. Here, we have identified eight new mutations located in the...

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Identifiers

PMID: 17822861
DOI: 10.1016/j.gene.2007.07.020

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