Zobrazeno 1 - 3
of 3
pro vyhledávání: '"R E, Kelsell"'
Autor:
K, Gregory-Evans, R E, Kelsell, C Y, Gregory-Evans, S M, Downes, F W, Fitzke, G E, Holder, M, Simunovic, J D, Mollon, R, Taylor, D M, Hunt, A C, Bird, A T, Moore
Publikováno v:
Ophthalmology. 107(1)
To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D.A prospective, clinical family survey.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2294a26683b3e64b615243e5be405b66
https://pubmed.ncbi.nlm.nih.gov/10647719
https://pubmed.ncbi.nlm.nih.gov/10647719
Publikováno v:
Ophthalmology. 103(6)
The gene for progressive bifocal chorioretinal atrophy (PBCRA) has been linked to chromosome 6q, near the genomic assignment for North Carolina macular dystrophy. A study was undertaken to define the clinical features of a large PBCRA pedigree and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::766d20308a3fca78a7f9b3de00903531
https://pubmed.ncbi.nlm.nih.gov/8643244
https://pubmed.ncbi.nlm.nih.gov/8643244
Autor:
R E, Kelsell
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 58
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dbf23c9d8b2d250d2d55b94e5412faeb
https://pubmed.ncbi.nlm.nih.gov/8713847
https://pubmed.ncbi.nlm.nih.gov/8713847