Article
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Cell - 29 Jul 1994
Shiang R, Thompson L M, Zhu Y Z, Church D M, Fielder T J, Bocian M, Winokur S T, Wasmuth J J
Abstract excerpt
Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4p16.3 by linkage analyses. The ACH candidate region includes the gene encoding fibrob...
Topics
- Achondroplasia
- Alleles
- Amino Acid Sequence
- B-Lymphocytes
- Base Sequence
- Cells, Cultured
- Child
- DNA Mutational Analysis
- DNA, Complementary
- Female
- Fibroblasts
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Point Mutation
- Polymorphism, Restriction Fragment Length