J Fielding Hejtmancik
Biographic Data
| ID | 8260324 |
|---|---|
| NAME | J Fielding Hejtmancik |
| GIVEN NAMES | J Fielding |
| FAMILY NAME | Hejtmancik |
| SIGNATURE | HEJTMANCIK J F |
| AFFILIATIONS | National Eye Institute |
| ORCID | 0000-0002-4788-0362 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2022 |
| H-INDEX | 0 |
Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes, including the lens crystallins, are associated with congenital cataracts and other eye diseases. …
No prominent works on this page.
Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts
This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated by transcription factors. Disease-causing variants in transcription factors and their developmental target genes, including the lens crystallins, are associated with congenital cataracts and other eye diseases. …
Biology (1 work) · Cataracts (1 work) · Connexins and lens biology (1 work) · Exome sequencing (1 work) · Frameshift mutation (1 work) · Gene (1 work) · Genetics (1 work) · Missense mutation (1 work) · Mutation (1 work) · Sanger sequencing (1 work)