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Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

机译：由于成纤维细胞生长因子受体3基因的新Asn540Ser突变而导致软骨发育不良的家庭的临床和影像学特征

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期刊名称 Journal of Medical Genetics
作者
G. MORTIER; L. NUYTINCK; M. CRAEN; J. RENARD; J. LEROY; A. DE PAEPE;
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作者单位

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年(卷),期 2000(37),3
年度 2000
页码 220–224
总页数 5
原文格式 PDF
正文语种
中图分类遗传学;
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1. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene (letter) [J] . Mortier G, Nuytinck L, Craen M, Journal of Medical Genetics . 2000,第3期

机译：由于成纤维细胞生长因子受体3基因中的新Asn540Ser突变而导致软骨发育不良的家庭的临床和影像学特征（字母）
2. Anthropometric and Radiological Findings in Patients with Hypochondroplasia. Correlation with Presence of Mutations in the Fibroblast Growth Factor Receptor 3 Gene [J] . M del Pino, V Fano, P Gravina, Pediatric Research . 2003,第5期

机译：软骨发育不良患者的人体测量和放射学发现。与成纤维细胞生长因子受体3基因突变的存在相关
3. Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia and Thanatophoric Dwarfism [J] . J. Bonaventure, F. Rousseau, L. Legeai-Mallet, Clinical Pediatric Endocrinology . 1997,第Supple10期

机译：成纤维细胞生长因子受体3（FGFR 3）基因的常见突变解释了软骨发育不全，软骨发育不良和胸壁侏儒症
4. A COMPUTATIONAL MODEL OF FIBROBLAST GROWTH FACTOR-2 BINDING TO ISOLATED AND INTACT CELL SURFACE RECEPTORS: EFFECTS OF FIBROBLAST GROWTH FACTOR-2 CONCENTRATION, FLOW AND DELIVERY MODE [C] . Nisha S Patel, Alisa Morss Clyne ASME summer bioengineering conference;SBC2012 . 2012

机译：成纤维细胞生长因子-2与分离的完整细胞表面受体结合的计算模型：成纤维细胞生长因子-2浓度，流量和递送模式的影响
5. Analysis of sequence variation in the three fibroblast growth factor receptor genes and estimation of mutation frequency at the achondroplasia base in pools of human sperm. [D] . Lind, Denise Loreen. 2002

机译：分析三个成纤维细胞生长因子受体基因的序列变异并估算人类精子池中软骨发育不全碱基的突变频率。
6. A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia [O] . Ikuko Takahashi, Daiki Kondo, Chikako Oyama, 2018

机译：日本儿童软骨发育不良的成纤维细胞生长因子受体3的新型S269C突变
7. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [O] . MORTIER, G., NUYTINCK, L., CRAEN, M., 2000

机译：由于成纤维细胞生长因子受体3基因的新Asn540Ser突变而导致软骨发育不良的家庭的临床和影像学特征
8. Markers of Fibroblast Growth Factor Family-Mediated Growth Signal Transduction asDeterminants of Successful Hormonal Therapy for Patients with Estrogen Receptor Positive Breast Cancer [R] . Kern, F. G. 1995

机译：成纤维细胞生长因子家族介导的生长信号转导标志物作为雌激素受体阳性乳腺癌患者成功激素治疗的决定因素

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

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