该基因位于17号染色体的Smith-Magenis综合征区域。该基因突变与Birt-Hogg-Dube综合征有关,后者以纤维滤泡瘤、肾肿瘤、肺囊肿和气胸为特征。该基因的选择性剪接导致编码不同亚型的两个转录变体。This gene is located within the Smith-Magenis syndrome region on ch
该基因位于17号染色体的Smith-Magenis综合征区域。该基因突变与Birt-Hogg-Dube综合征有关,后者以纤维滤泡瘤、肾肿瘤、肺囊肿和气胸为特征。该基因的选择性剪接导致编码不同亚型的两个转录变体。 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associ...
FLCN gene-mutated renal cellneoplasms: mother and daughter cases with a novel germline mutation. Nagashima, Y,Furuya, M,Gotohda, H,Takagi, S,Hes, O,Michal, M,Grossmann, P,Tanaka, R,Nakatani, Y,Kuroda, N. Internationaljournal of urology: official journal of the Japanese Urological ...
Gene ID: 201163 种属 Homo sapiens 基因序列编号: NM_144997.7 基因描述 Homo sapiens folliculin (FLCN), transcript variant 1, mRNA DNA编码区: atgaatgccatcgtggctctctgccacttctgcgagctccacggcccccgcactctcttc tgcacggaggtgctgcacgccccacttcctcaaggggatgggaatgaggacagtcctggc cagggtgagcaggcggaagaagaggaaggtggc...
该基因位于17号染色体的Smith-Magenis综合征区域。该基因突变与Birt-Hogg-Dube综合征有关,后者以纤维滤泡瘤、肾肿瘤、肺囊肿和气胸为特征。该基因的选择性剪接导致编码不同亚型的两个转录变体。This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associat...
基因家族(gene family) DENN/MADD domain containing refseq数据库代号 NM_144606 更多... 基因染色体位置 基因染色体位置 17p11.2 基因简述 基因简述 This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which...
Finn C Nielsen1 and Thomas vO Hansen1 Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt–Hogg–Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothorac...
[Key words] Spontaneous pneumothorax;cysts;FLCN gene mutation;bullectomy pleurodesis 自发性气胸(spontaneous pneumothorax,SP) 是胸外科的急症之一。患病时空气进入胸膜腔,导致 肺萎陷、肺不张、低氧血症,对于高龄或有合并症的 病人甚至可能危及生命 [1] 。SP 多认为是胸膜下无明确 原因或诱因所形成微小...
In this study, samples from multifocal renal tumors from two dogs affected with renal cystadenocarcinoma and nodular dermatofibrosis (RCND) were collected for detection of putative second hits in the FLCN gene. Genomic DNA from the samples was typed at the previously identified disease-associated mi...
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript ...