Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.
作者信息
Hobbs Maurine R, Rosen Irving B, Jackson Charles E
出版信息
Am J Hum Genet. 2002 May;70(5):1376-7. doi: 10.1086/340093.
Abstract
摘要
相似文献
1
Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.甲状旁腺功能亢进-颌骨肿瘤综合征基因HRPT2的修订后14.7厘摩位点。
Am J Hum Genet. 2002 May;70(5):1376-7. doi: 10.1086/340093.
2
A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome.一种新型的IVS2-1G>A突变在一个甲状旁腺功能亢进-颌骨肿瘤综合征家族中导致HRPT2基因的异常剪接。
J Clin Endocrinol Metab. 2005 Feb;90(2):878-83. doi: 10.1210/jc.2004-0991. Epub 2004 Dec 21.
3
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):224. doi: 10.1007/s00439-003-1060-z.
4
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z.
5
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z.
6
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):223. doi: 10.1007/s00439-003-1060-z.
7
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):222. doi: 10.1007/s00439-003-1060-z.
8
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):222. doi: 10.1007/s00439-003-1060-z.
9
Human gene mutations. Gene symbol: HRPT2. Disease: Hyperparathyroidism Jaw-tumor syndrome.人类基因突变。基因符号：HRPT2。疾病：甲状旁腺功能亢进颌骨肿瘤综合征。
Hum Genet. 2004 Jan;114(2):221. doi: 10.1007/s00439-003-1060-z.
10
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.来自葡萄牙罗姆家庭的甲状旁腺功能亢进-颌骨肿瘤综合征是由HRPT2基因的奠基者突变引起的。
J Clin Endocrinol Metab. 2004 Apr;89(4):1747-52. doi: 10.1210/jc.2003-031016.
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Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.甲状旁腺功能亢进-颌骨肿瘤综合征：HRPT2基因座位于1号染色体长臂上一个0.7厘摩的区域内。
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