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...
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...
Objective To study the mutation of FLCN gene in Chinese patients with sporadic and familial primary spontaneous pneumothorax. Methods A complete genetic analysis of FLCN by use of SSCP-PCR was performed in 102 unrelated Chinese patients with isolated PSP. Results Three novel mutations (c. 924_926...
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...
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...
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dub (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded ...
Molecular analysis of the folliculin (FLCN) gene was performed in four consenting patients from two families with Birt-Hogg-Dubé (BHD) syndrome, showing the occurrence of two frameshift mutations located respectively in exons 5 (802insA) and 9 (1345delAAAG) of the FLCN gene. A novel homozygo...
该FLCN Polyclonal Antibody. 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...
cancerGermline mutation of the FLCN gene causes Birt-Hogg-Dub茅 syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe...