Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

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scientific article published on 10 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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Novel mutations in ALDH1A3 ass ...... , and review of the literature

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P1476

Novel mutations in ALDH1A3 ass ...... , and review of the literature

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P2093

Abdul Hameed

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Andrew H Crosby

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Emma L Baple

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Gaurav V Harlalka

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Hadia Moattar Reham

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Muhammad Yasin

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Noor Muhammad

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Saadullah Khan

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P2860

Anophthalmia and microphthalmia

Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD(+) and retinoic acid

Evidence for a signal peptide at the amino-terminal end of human mitochondrial aldehyde dehydrogenase

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred

Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients.

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Alcohol and aldehyde dehydrogenases: retinoid metabolic effects in mouse knockout models

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A practical guide to the management of anophthalmia and microphthalmia.

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s12881-018-0678-6

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160

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scholarly article

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10.1186/S12881-018-0678-6

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English

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Siying Lin

Shamim Saleha

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2018-09-10T00:00:00Z

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1106904739

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30200890

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6131798

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