Page last updated: 2024-10-16

adenine and Microphthalmia

adenine has been researched along with Microphthalmia in 1 studies

Research Excerpts

ExcerptRelevanceReference
"475G>A mutation in exon 5 of HCCS, predicting an amino acid substitution of the highly conserved glutamate at position 159 by lysine, in a female presenting with bilateral microphthalmia and sclerocornea."3.74HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? ( Kutsche, K; Shaw, GM; Wimplinger, I, 2007)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wimplinger, I1
Shaw, GM1
Kutsche, K1

Other Studies

1 other study available for adenine and Microphthalmia

ArticleYear
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?
    Molecular vision, 2007, Aug-27, Volume: 13

    Topics: Abnormalities, Multiple; Adenine; Amino Acid Substitution; Animals; CHO Cells; Chromosomes, Human, X

2007