Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?
作者信息
Butler M G
出版信息
Am J Med Genet. 1994 Mar 1;50(1):42-5. doi: 10.1002/ajmg.1320500109.
Abstract
摘要
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Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?特定的短臂变异或异态性在天使综合征或普拉德-威利综合征患者的15号染色体缺失中是否过度存在？
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Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104.
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Parental origin of chromosome 15 deletion in Prader-Willi syndrome.普拉德-威利综合征中15号染色体缺失的亲本来源
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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
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Nature. 1989 Nov 16;342(6247):281-5. doi: 10.1038/342281a0.
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Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.用于研究普拉德-威利综合征染色体异常的DNA探针的定量校准及应用
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