Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ramachandran Ramya, Devi"'
A genome wide scan in a consanguineous family of Indian origin with autosomal recessive developmental cataracts was performed by two-point linkage analysis with 382 microsatellite markers. It showed linkage to markers on chromosome 20q, between D20S8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::dd39a2a2292274d5cb167d524d486cd1
https://zenodo.org/record/1232729
https://zenodo.org/record/1232729
Publikováno v:
Molecular vision. 12
The purpose of this study was to estimate the importance of mutations in the connexin50 gene (GJA8) as a cause of congenital or developmental cataracts in the Indian population and to identify novel mutations in GJA8 that cause cataract in this popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::386a5110b0c604d9b7130d764c3c3ed0
https://pubmed.ncbi.nlm.nih.gov/16604058
https://pubmed.ncbi.nlm.nih.gov/16604058
Publikováno v:
Molecular vision. 11
Connexin 46 (Cx46) is crucial in the maintenance of lens homeostasis and it is known to be expressed mainly in the terminally differentiated lens fiber cells. The present study aimed to identify the spectrum of mutations in Connexin 46 in the Indian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3366879692de33bbcf12e71e83433e31
https://pubmed.ncbi.nlm.nih.gov/16254549
https://pubmed.ncbi.nlm.nih.gov/16254549
Autor:
Ramachandran RD; Department of Molecular Biology, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamilnadu, India., Perumalsamy V, Hejtmancik JF
Publikováno v:
Human genetics [Hum Genet] 2007 May; Vol. 121 (3-4), pp. 475-82. Date of Electronic Publication: 2007 Jan 16.