Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 24, Issue 1, 2011, Pages 186-188

  Liu, Ying Na ^a   Li, Ru ^a   Li, Dong Zhi ^a  

^a GUANGZHOU MATERNAL AND NEONATAL HOSPITAL   (China)

Author keywords

FGFR3 gene; high resolution melting analysis; type 1 thanatophoric dysplasia

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FETUS ECHOGRAPHY; FIBROBLAST GROWTH FACTOR RECEPTOR 3 GENE; GENE; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPIC VARIATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SENSITIVITY AND SPECIFICITY; THANATOPHORIC DWARFISM;

CASE-CONTROL STUDIES; FETAL DISEASES; GENETIC TESTING; GENOTYPE; HUMANS; NUCLEIC ACID DENATURATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; THANATOPHORIC DYSPLASIA;

EID: 78650104157     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2010.482621     Document Type: Article

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