Fares-Taie, Lucas

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. [electronic resource] - American journal of human genetics Feb 2013 - 265-70 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2012.12.003 doi


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