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Oculocutaneous albinism

AbstractOculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all...

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Mutations in the VNTR of the carboxyl-ester lipase gene ( CEL ) are a rare...

AbstractWe have previously shown that heterozygous single-base deletions in the carboxyl-ester lipase (CEL) gene cause exocrine and endocrine pancreatic dysfunction in two multigenerational families....

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Genomic deletions in OPA1 in Danish patients with autosomal dominant optic...

AbstractBackgroundAutosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the...

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Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1 ,...

AbstractBackgroundInvestigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark.MethodsIndex patients from 93 unrelated ADOA families were assessed for a common...

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