Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Shiang, R; Thompson, L M; Zhu, Y Z; Church, D M; Fielder, T J; Bocian, M; Winokur, S T; Wasmuth, J J

Shiang, R; Thompson, L M; Zhu, Y Z; Church, D M; Fielder, T J; Bocian, M; Winokur, S T; Wasmuth, J J.

Affiliation

Shiang R; Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717.

Cell ; 78(2): 335-42, 1994 Jul 29.

Article in En | MEDLINE | ID: mdl-7913883

Subject(s)

Achondroplasia/genetics; Point Mutation/genetics; Protein-Tyrosine Kinases; Receptors, Fibroblast Growth Factor/genetics; Alleles; Amino Acid Sequence; B-Lymphocytes; Base Sequence; Cells, Cultured; Child; DNA Mutational Analysis; DNA, Complementary/biosynthesis; Female; Fibroblasts; Heterozygote; Homozygote; Humans; Male; Molecular Sequence Data; Point Mutation/physiology; Polymorphism, Restriction Fragment Length; Receptor, Fibroblast Growth Factor, Type 3

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Collection: 01-internacional Database: MEDLINE Main subject: Achondroplasia / Protein-Tyrosine Kinases / Receptors, Fibroblast Growth Factor / Point Mutation Limits: Child / Female / Humans / Male Language: En Journal: Cell Year: 1994 Type: Article

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