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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 10, 2024. (Total: 231322Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Dwarfism and FGFR3[original query]
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
Journal of human genetics 2004 49 (8): 399-403.
Su Yi-Ning, Lee Chien-Nan, Chien Shu-Chin, Hung Chia-Cheng, Chien Yin-Hsiu, Chen Chi-
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.
The Tohoku journal of experimental medicine 2006 Feb 208 (2): 103-7.
Satiroglu-Tufan N Lale, Tufan A Cevik, Semerci C Nur, Bagci Husey
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Molecular and cellular probes 2008 Apr 22 (2): 71-5.
Etlik Ozdal, Koksal Vedat, Tugba Arican-Baris Saniye, Baris Ibrah
Molecular studies of achondroplasia.
Indian journal of orthopaedics 2009 Apr 43 (2): 194-6.
Nahar Risha, Saxena Renu, Kohli Sudha, Puri Ratna, Verma Ishwar Chand
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
International journal of clinical and experimental medicine 2015 8 (10): 19241-9.
Zhao Rong, Ruan Yan, Wang X
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