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A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

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Year: 1994
Type: article
Study design: Case Report
Source: Human Molecular Genetics
DOI: 10.1093/hmg/3.4.647
Authors: Maria T. Bassi, Arthur A.B. Bergen, Martin C. Wapenaar, Maria V. Schlaffino, Mary van Schooneveld, John R.W. Yates, Stephen J. Charles, Thomas Meltinger, Andrea Ballabio
Institutions: Baylor College of Medicine, IRCCS Ospedale San Raffaele, Addenbrooke's Hospital, Manchester Royal Eye Hospital, Ludwig-Maximilians-Universität München
Language: English

Topic: Retinal Development and Disorders
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W1987075113
FWCI: 0.368
Cites:
Cited by: 13
Related to: 10
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