Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.
作者信息
Godfrey M
出版信息
Am J Hum Genet. 1993 Jul;53(1):22-5.
Abstract
摘要
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本文引用的文献
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Degeneratio hyaloideo-retinalis herditaria.遗传性玻璃体视网膜变性。
Ophthalmologica. 1962;144:458-64. doi: 10.1159/000304398.
2
3
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).II型胶原蛋白（COL2A1）发生突变，用天冬氨酸替代α1-67位的甘氨酸，导致白内障和视网膜脱离：Wagner综合征和Stickler综合征（关节眼病）分子异质性的证据。
Am J Hum Genet. 1993 Jul;53(1):55-61.
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The Wagner-Stickler syndrome: a study of 22 families.瓦格纳-斯蒂克勒综合征：对22个家庭的研究。
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Congenital contractural arachnodactyly. A heritable disorder of connective tissue.先天性挛缩性蜘蛛指。一种结缔组织的遗传性疾病。
J Bone Joint Surg Am. 1971 Jul;53(5):987-93.
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Wagner's hereditary vitreoretinal degeneration and retinal detachment.瓦格纳遗传性玻璃体视网膜变性与视网膜脱离
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The Stickler syndrome.斯蒂克勒综合征
N Engl J Med. 1972 Mar 9;286(10):546-7. doi: 10.1056/NEJM197203092861020.
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"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.
Pediatrics. 1972 Apr;49(4):574-9.
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Management of retinal detachment in the Wagner-Stickler syndrome.
Trans Ophthalmol Soc U K (1962). 1985;104 ( Pt 8):875-9.
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