键琴
发表于 2025-3-28 15:12:05
Heterogeneity of Usher Syndrome Type Ing disorder, retinitis pigmentosa. In 1914 Usher was the first to describe the hereditary nature of this syndrome (1). Usher syndrome is the most common cause of deaf-blindness, causing at least 50% of all reported cases of combined deafness and blindness in developed countries. Its prevalence in th
接触
发表于 2025-3-28 21:20:22
The Norrie Disease Gene: Positional Cloning, Mutation Analysis and Protein Homologies been isolated by positional cloning. The locus for Norrie disease has been assigned to Xp11.3 through both linkage analysis and deletion mapping. The DXS7 locus and both the monoamine oxidase genes were found to be linked to the disease locus. By subcloning a YAC clone encompassing these loci and o
seroma
发表于 2025-3-28 23:52:03
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有角
发表于 2025-3-29 06:12:00
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implore
发表于 2025-3-29 09:43:17
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mastoid-bone
发表于 2025-3-29 11:38:56
Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encodin novel biotin-based subtraction procedure .. At least 70% of the random cDNA clones from the subtracted retina and RPE libraries are not constitutively expressed. To identify candidate genes for eye diseases, several novel cDNA clones from subtracted libraries (as determined by sequence comparison)
homeostasis
发表于 2025-3-29 17:45:42
Linkage Analysis in Malattia Leventinese, an Autosomal Dominant form of Macular Degenerationrefore, Deutman and Jansen (3) proposed the designation “dominant drusen” for all these diseases. The molecular abnormality which underlies the formation of dominant drusen is not known. Since elucidation of the molecular basis of malattia leventinese may also shed light on the pathogenesis of other
ventilate
发表于 2025-3-29 23:47:00
Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa Due to a 3-Base Pair Deletiein who divided adRP in two types.. Type I is characterized with a diffuse loss of rod function and with an onset of night blindness usually during the first decade of life. The cone function is relatively well preserved throughout life. In contrast, type II (“sector”) of adRP shows a regional loss
Capitulate
发表于 2025-3-30 01:44:12
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使虚弱
发表于 2025-3-30 04:39:25
Identification of Candidate Genes for Eye Diseases: Studies on a Neural Retina-Specific Gene Encodin primers have been designed and will be used to screen for mutations within the NRL gene in patients with retinal diseases. A polymorphic microsatellite (CA). repeat has been identified within the NRL cosmid and should be valuable for linkage analysis.