Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00214183.pdf
Reference30 articles.
1. Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH (1990) Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant Cerulean congenital cataracts. Am J Med Genet 37:54?59
2. Carper D, Shinohara T, Piatigorsky J, Kinoshita JH (1982) Deficiency of functional messenger RNA for a developmentally regulated beta-crystallin polypeptide in a hereditary cataract. Science 217:463?464
3. Carritt B, King J, Welch HM (1982) Gene order and localization of enzyme loci on the short arm of chromosome 1. Ann Hum Genet 46:329?335
4. Conneally PM, Wilson AF, Merrit AD, Helveston EM, Palmer CG, Wang LY (1978) Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. Cytogenet Cell Genet 22:295?297
5. D'Ancoma GG, Chern CJ, Benn P, Croce CM (1977) Assignment of the human gene for enolase 1 to region pter?p36 of chromosome 1. Cytogenet Cell Genet 18:327?332
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