共查询到20条相似文献，搜索用时 8 毫秒
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N. Morral E. Girbau J. Zielenski V. Nunes T. Casals L. -C. Tsui X. Estivill 《Human genetics》1992,88(3):356-356
Summary We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. 相似文献
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Corinne Mimault Fabrice Cailloux Geneviève Giraud Bernard Dastugue Odile Boespflug-Tanguy 《Human genetics》1995,96(2):236-236
We report a dinucleotide polymorphism in the first intron of the proteolipid protein (PLP) gene with a heterozygosity frequency of 0.69 useful for molecular analysis of families with X-linked neurologic disorders characterized by dysmyelination of the central nervous system, Pelizaeus-Merzbacher Disease (PMD) and X-linked Spastic Paraplegia (SPG2). 相似文献
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P. Gasparini M. Dognini A. Bonizzato P. F. Pignatti N. Morral X. Estivill 《Human genetics》1991,86(6):625-625
Summary We describe a tetranucleotide (GATT) repeat polymorphism in the cystic fibrosis transmembrane conductance regulator gene. 相似文献
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Lidija Petreska Svetlana Kočeva Aleksandra Gordova-Muratovska Georgi Dimitar Efremov 《Human genetics》1995,95(4):465-466
Here we describe a new polymorphism, located in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene at nucleotide position 1104 (CG), detected by single-strand conformational polymorphism (SSCP) analysis. 相似文献
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Makoto Daimon Yoshihiro Morita Keiichi Yamatani Masahiko Igarashi Norio Fukase Toru Kawanami Takeo Kato Makoto Tominaga Hideo Sasaki 《Human genetics》1995,96(6):736-736
We have identified a GT dinucleotide repeat polymorphism in intron 14 of the human ceruloplasmin gene. Observed heterozygosity for the polymorphism is 0.84. 相似文献
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