Identities and frequencies of variants in
Adolescent
Adult
Aged
Alleles
Amino Acid Sequence
Amino Acid Substitution
Child
Child, Preschool
Consanguinity
Cytochrome P-450 CYP1B1
/ genetics
DNA Mutational Analysis
Female
Gene Expression
Gene Frequency
Genetic Heterogeneity
Glaucoma
/ congenital
Humans
Infant
Latent TGF-beta Binding Proteins
/ genetics
Male
Middle Aged
Mutation
Pakistan
Pedigree
Sequence Alignment
Trabeculectomy
/ methods
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2019
2019
Historique:
received:
17
09
2018
accepted:
20
02
2019
entrez:
2
3
2019
pubmed:
2
3
2019
medline:
15
6
2019
Statut:
epublish
Résumé
Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Ophthalmic examination including fundoscopy, or slit-lamp microscopy was performed to clinically characterize the PCG phenotype. Genomic nucleotide sequences of the Among the known loci, mutations in In conclusion, results of the present study enhance our understanding of the genetic basis of PCG, support the notion of a genetic modifier of
Substances chimiques
LTBP2 protein, human
0
Latent TGF-beta Binding Proteins
0
CYP1B1 protein, human
EC 1.14.14.1
Cytochrome P-450 CYP1B1
EC 1.14.14.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
144-154Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC016295
Pays : United States
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