Identification of novel mutations in the human EXT1 tumor suppressor gene

Human Genetics

Volumn 99, Issue 5, 1997, Pages 612-615

  Wells, Dan E ^a   Hill, April ^a,b   Lin, Xin ^a   Ahn, Jung ^a   Brown, Nicholas ^a   Wagner, Michael J ^a,c  

^a Department of Biology Institute for Molecular Biology University of Houston ^*  (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c GLAXOSMITHKLINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 11; CHROMOSOME 19; CHROMOSOME 8; EXON; FEMALE; GENE MUTATION; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MALE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 0030891393     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050415     Document Type: Article

References (10)

1. Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE (1995) Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11: 137-143
2. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, Puffenberger E, Conrad EU, Schmale G, Schellenberg G, Wijsman E, Hecht JT, Wells D, Wagner MJ (1993) Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 53 :71-79
3. Hecht JT, Hogue D, Strong LC, Hansen M, Blanton SH, Wagner M (1995) Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56: 1125-1131
4. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P (1994) A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 3:717-712
5. Lohmann DR, Brandt B, Hopping W, Passarge E, Horsthemke B (1994) Spectrum of small length germline mutations in the RB1 gene. Hum Mol Genet 3:2187-2193
6. Luckert-Wicklund C, Pauli RM, Johnston D, Hecht JT (1995) Natural history study of hereditary multiple exostoses. Am J Hum Genet 55:43-46
7. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
8. Raskind WH, Conrad EU, Chansky H, Matsushita M (1995) Loss of heterozygosity in chondrosarcomas for hereditary multiple exostoses-linked markers on chromosomes 8 and 11. Am J Hum Genet 56: 1132-1139
9. Solomon L (1964) Hereditary multiple exostosis. Am J Hum Genet 16:351-363
10. Wu Y-Q, Heutink P, Vries BBA de, Sandkuijl LA, Ouweland AMW van den, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJJ (1994) Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet 3: 167-171