Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia-Reference-Cited by-同舟云学术

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Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia

Published:2006 Issue:2 Volume:208 Page:103-107
ISSN:0040-8727
Container-title:The Tohoku Journal of Experimental Medicine
language:en
Short-container-title:Tohoku J. Exp. Med.

Author:

Satiroglu-Tufan N. Lale¹²,Tufan A. Cevik²³,Semerci C. Nur¹,Bagci Huseyin¹²

Affiliation:

1. Department of Medical Biology, Center for Genetic Diagnosis, Molecular Genetics Laboratory, School of Medicine, Pamukkale University

2. Pamukkale University Research Center for Genetic Engineering and Biotechnology

3. Department of Histology and Embryology, School of Medicine, Pamukkale University

Publisher

Tohoku University Medical Press

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.jstage.jst.go.jp/article/tjem/208/2/208_2_103/_pdf

Reference8 articles.

1. Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

2. Effects of primer-template mismatches on the polymerase chain reaction: Human immunodeficiency virus type 1 model studies

3. An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia

4. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review;Genes;2023-01-12

2. Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia;Gene;2018-01

3. Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality;Pediatric Radiology;2016-12-01

4. An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia;Molecular and Cellular Probes;2008-04

5. Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia;Chinese Medical Journal;2007-06

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