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  2. Details for: ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. [electronic resource]

By:
  • Fares-Taie, Lucas
Contributor(s):
  • Gerber, Sylvie
  • Chassaing, Nicolas
  • Clayton-Smith, Jill
  • Hanein, Sylvain
  • Silva, Eduardo
  • Serey, Margaux
  • Serre, Valérie
  • Gérard, Xavier
  • Baumann, Clarisse
  • Plessis, Ghislaine
  • Demeer, Bénédicte
  • Brétillon, Lionel
  • Bole, Christine
  • Nitschke, Patrick
  • Munnich, Arnold
  • Lyonnet, Stanislas
  • Calvas, Patrick
  • Kaplan, Josseline
  • Ragge, Nicola
  • Rozet, Jean-Michel
Producer: 20130404Description: 265-70 p. digitalISSN:
  • 1537-6605
Subject(s):
  • Aldehyde Dehydrogenase -- genetics
  • Aldehyde Oxidoreductases
  • Anophthalmos -- enzymology
  • Chromosome Segregation -- genetics
  • Exons -- genetics
  • Female
  • Genes, Recessive -- genetics
  • Genetic Linkage
  • HEK293 Cells
  • Homozygote
  • Humans
  • Introns -- genetics
  • Male
  • Microphthalmos -- enzymology
  • Mutant Proteins -- metabolism
  • Mutation -- genetics
  • Pedigree
  • Sequence Analysis, DNA
Online resources:
  • Available from publisher's website
In: American journal of human genetics vol. 92
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

APA

Fares-Taie L., Gerber S., Chassaing N., Clayton-Smith J., Hanein S., Silva E., Serey M., Serre V., Gérard X., Baumann C., Plessis G., Demeer B., Brétillon L., Bole C., Nitschke P., Munnich A., Lyonnet S., Calvas P., Kaplan J., Ragge N. & Rozet J. (20130404). ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. : American journal of human genetics.

Chicago

Fares-Taie Lucas, Gerber Sylvie, Chassaing Nicolas, Clayton-Smith Jill, Hanein Sylvain, Silva Eduardo, Serey Margaux, Serre Valérie, Gérard Xavier, Baumann Clarisse, Plessis Ghislaine, Demeer Bénédicte, Brétillon Lionel, Bole Christine, Nitschke Patrick, Munnich Arnold, Lyonnet Stanislas, Calvas Patrick, Kaplan Josseline, Ragge Nicola and Rozet Jean-Michel. 20130404. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. : American journal of human genetics.

Harvard

Fares-Taie L., Gerber S., Chassaing N., Clayton-Smith J., Hanein S., Silva E., Serey M., Serre V., Gérard X., Baumann C., Plessis G., Demeer B., Brétillon L., Bole C., Nitschke P., Munnich A., Lyonnet S., Calvas P., Kaplan J., Ragge N. and Rozet J. (20130404). ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. : American journal of human genetics.

MLA

Fares-Taie Lucas, Gerber Sylvie, Chassaing Nicolas, Clayton-Smith Jill, Hanein Sylvain, Silva Eduardo, Serey Margaux, Serre Valérie, Gérard Xavier, Baumann Clarisse, Plessis Ghislaine, Demeer Bénédicte, Brétillon Lionel, Bole Christine, Nitschke Patrick, Munnich Arnold, Lyonnet Stanislas, Calvas Patrick, Kaplan Josseline, Ragge Nicola and Rozet Jean-Michel. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. : American journal of human genetics. 20130404.

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