A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1)

Clinical Genetics

Volumn 51, Issue 2, 1997, Pages 133-134

  Urbán, Zsolt ^a   Csiszár, Katalin ^a   Fekete, György ^b   Boyd, Charles D ^a,c  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^c UNIVERSITY OF HAWAII   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; ELASTIN;

ALLELE; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; GENE; GENE FREQUENCY; GENOTYPE; HUMAN; INTRON; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 0030896119     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02438.x     Document Type: Article

References (5)

1. Ewart AK, Morris CA, Ensing GJ, Loker J, Moore C, Leppert M, Keating MT. A human vascular disorder, supravalvular aortic stenosis maps to chromosome 7. Proc Natl Acad Sci USA 1993a: 90: 3226-3230.
2. Ewart AK, Morris CA, Atkinson DL, Jin W, Sternes K, Spalone P, Stock AD, Leppert M, Keating MT. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 1993b: 5: 11-16.
3. Fazio MJ, Mattel M-G, Passage E, Chu M-L, Black D, Solomon E, Davidson JM, Uitto J. Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet 1991: 48: 696-703.
4. Olson TM, Michels VV, Lindor NM, Pastores GM, Weber JL, Schaid DJ, Driscoll DJ, Feldt RH, Thibodeau SN. Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. Hum Mol Genet 1993: 2: 869-873.
5. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet 1996: 59: 958-962.