Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenital achondroplasia patients

Chinese Journal of Medical Genetics

Volumn 19, Issue 3, 2002, Pages 205-208

  Ni, Jihong ^a   Lu, Guoqiang ^a   Wang, Wie ^a   Chen, Fengsheng ^a   Qin, Huili ^a   Wang, Defen ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

Author keywords

Congenital achondroplasia; Fibroblast growth factor receptor 3; Gene; Mutation; Transmembrane domain

Indexed keywords

DIAGNOSIS; DISEASES; DNA; ELECTROPHORESIS; ENZYMES; GELS; GENES; PATHOLOGY; SCREENING;

FIBROBLAST;

MUTAGENESIS;

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NUCLEOTIDE;

ACHONDROPLASIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOME; HUMAN; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PROTEIN DOMAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; VALIDATION PROCESS;

ACHONDROPLASIA; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0036281018     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Achondroplasia is defined by recurrent G380R mutations of FGFR3
2. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
3. Genotype phenotype correlation in achondroplasia and hypochondroplasia
4. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Review and update
5. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
6. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achordroplasia
7. Clinical and genetic heterogeneity of hypochondroplasia