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An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers. The mother has patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Additional...

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書誌詳細
主要な著者: Schnur, R E, Trask, B J, van den Engh, G, Punnett, H H, Kistenmacher, M, Tomeo, M A, Naids, R E, Nussbaum, R L
フォーマット: Artigo
言語:Inglês
出版事項: 1989
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683435/
https://ncbi.nlm.nih.gov/pubmed/2573275
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