Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia

Human Mutation

Volumn 8, Issue 2, 1996, Pages 178-179

  Wang, Tso Ren ^a   Wang, Wen Pin ^b   Hwu, Wuh Liang ^a   Lee, Ming Liang ^b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b TZU CHI UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DWARFISM; ETHNIC GROUP; GENE MUTATION; GENOME; HUMAN; HUMAN CELL; LEUKOCYTE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0029780683     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)8:2<178::aid-humu10>3.0.co;2-#     Document Type: Article

References (5)

1. Cooper DN, Krawczak M (1990) The mutation spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 85:55-74.
2. Hwu W-L, Wang T-R (1991) A clinical observation of Achondroplasia. Acta Paed Sin 32:208-213.
3. Le Merrer M, Rousseau F, Legeai-Mallet L, Landais J-C, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, Maroteaux P (1994) A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nature Genet 6:318-321.
4. Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S (1979) Achondroplasia and hypochondroplasia. J Med Gene 16:140-146.
5. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutation in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342.