Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis.
作者信息
Pastores G M, Michels V V, Schaid D J, Driscoll D J, Feldt R H, Thibodeau S N
机构信息
Department of Medical Genetics, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
出版信息
J Med Genet. 1992 Jan;29(1):56-7. doi: 10.1136/jmg.29.1.56.
Abstract
摘要
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本文引用的文献
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Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
2
Imparied calcitonin secretion in patients with Williams syndrome.威廉姆斯综合征患者降钙素分泌受损。
J Pediatr. 1985 Nov;107(5):720-3. doi: 10.1016/s0022-3476(85)80399-1.
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Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome.在正常家庭和患有脆性X综合征的家庭中使用多个DNA多态性标记进行连锁分析。
Hum Genet. 1988 Jul;79(3):219-27. doi: 10.1007/BF00366240.
4
Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis.在一个患有常染色体显性遗传型主动脉瓣上狭窄的家族中，排除降钙素作为基本缺陷候选基因的可能性。
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5
Autosomal dominant supravalvular aortic stenosis: large three-generation family.常染色体显性遗传的主动脉瓣上狭窄：三代大家庭
Am J Med Genet. 1989 Mar;32(3):384-9. doi: 10.1002/ajmg.1320320324.
6
Structure and methylation of the human calcitonin/alpha-CGRP gene.人降钙素/α-CGRP基因的结构与甲基化
Nucleic Acids Res. 1989 Sep 12;17(17):6999-7011. doi: 10.1093/nar/17.17.6999.
7
The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome.婴儿高钙血症/威廉姆斯-贝伦综合征中的降钙素-CGRP基因
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Characterization of the calcitonin/CGRP gene in Williams syndrome.威廉姆斯综合征中降钙素/降钙素基因相关肽基因的特征分析。
Am J Med Genet. 1991 Apr 1;39(1):28-33. doi: 10.1002/ajmg.1320390108.
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