Identification of a novel platelet-derived growth factor-like gene, fallotein, in the human reproductive tract

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 醫學院 > 醫學系 > 期刊論文 > Item 310903500/30121

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题名:	Identification of a novel platelet-derived growth factor-like gene, fallotein, in the human reproductive tract
作者:	Tsai, YJ;Lee, RKK;Lin, SP;Chen, YH
贡献者:	醫學院醫學系;Mackay Mem Hosp, Dept Obstet & Gynecol, Div Reprod Endocrinol & Infertil, Taipei 10449, Taiwan;Mackay Mem Hosp, Dept Med Res, Div Reprod & Endocrinol, Tamshui, Taiwan;China Med Coll, Sch Med, Taichung, Taiwan
日期:	2000
上传时间:	2010-09-24 14:49:37 (UTC+8)
出版者:	ELSEVIER SCIENCE BV
摘要:	A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation. Conclusion: Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.
關聯:	BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1492(1):196-202
显示于类别:	[醫學系] 期刊論文

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