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Lap-Chee Tsui

Researcher at University of Hong Kong

Publications -  80
Citations -  39300

Lap-Chee Tsui is an academic researcher from University of Hong Kong. The author has contributed to research in topics: Cystic fibrosis & Cystic fibrosis transmembrane conductance regulator. The author has an hindex of 44, co-authored 80 publications receiving 38037 citations. Previous affiliations of Lap-Chee Tsui include Genome Canada & University of Toronto.

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Journal ArticleDOI

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

TL;DR: A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
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The International HapMap Project

John W. Belmont, +145 more
- 18 Dec 2003 - 
TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.
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A haplotype map of the human genome

John W. Belmont, +232 more
TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
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A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer, +237 more
- 18 Oct 2007 - 
TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Journal ArticleDOI

Identification of the cystic fibrosis gene: genetic analysis.

TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.