Autosomal dominant myopia associated to a novel
<i>P4HA2</i>
missense variant and defective collagen hydroxylation

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

Napolitano, F.; Di Iorio, V.; Testa, F.; Tirozzi, A.; Reccia, M.G.; Lombardi, L.; Farina, O.; Simonelli, F.; Gianfrancesco, F.; Di Iorio, G.; Melone, M.A.B.; Esposito, T.; Sampaolo, S.

期刊名称Clinical Genetics
作者Napolitano, F.; Di Iorio, V.; Testa, F.; Tirozzi, A.; Reccia, M.G.; Lombardi, L.; Farina, O.; Simonelli, F.; Gianfrancesco, F.; Di Iorio, G.; Melone, M.A.B.; Esposito, T.; Sampaolo, S.
印刷ISSN0009-9163
文件大小1857.97KB
发表时间2018-01-24
DOI10.1111/cge.13217

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Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation