Cystic fibrosis: genotypic and phenotypic variations.

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Published in Annu Rev Genet on January 01, 1995

Authors

J Zielenski1, L C Tsui

Author Affiliations

1: Department of Genetics, Hospital for Sick Children, Ontario, Canada.

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Report of the committee on the genetic constitution of chromosomes 7 and 8. Cytogenet Cell Genet (1989) 1.06

Receptor-binding, tyrosine phosphorylation and chromosome localization of the mouse SH2-containing phosphotyrosine phosphatase Syp. Oncogene (1994) 1.06

Mapping of the cystic fibrosis locus on chromosome 7. Cold Spring Harb Symp Quant Biol (1986) 1.06

Isolation of three novel human genes encoding G protein-coupled receptors. DNA Cell Biol (1995) 1.05

Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family. Mol Cell Biol (1987) 1.05

Regulation of meiotic chromatin loop size by chromosomal position. Proc Natl Acad Sci U S A (1996) 1.04

Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens. Mol Cell Biol (1987) 1.04