W. H. Lo

发表

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yang Liu, Sen Yang, Miao Sun, 2009, Nature Genetics.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

S. Daiger, W. H. Lo, Y. Zeng, 1989, American journal of human genetics.

The spectrum of beta-thalassemia genes in China and Southeast Asia.

H. Kazazian, P. Waber, W. H. Lo, 1986, Blood.

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

M. Harvey, W. H. Lo, S. Huang, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

S. Cichon, M. Nöthen, C. Bodemer, 2009, Nature Genetics.

Molecular basis of PKU in China.

W. H. Lo, S. Woo, R. Eisensmith, 1993, Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih.

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family

Y. Wen, Miao Sun, Yang Luo, 2009, Journal of Human Genetics.

The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

S. Antonarakis, H. Kazazian, W. H. Lo, 1986, Human Genetics.

Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene

W. H. Lo, S. Huang, Y. Zeng, 1994, Human mutation.

Identification of three novel missense PKU mutations among Chinese.

W. H. Lo, S. Huang, Y. Zeng, 1992, Genomics.

Cloning and Sequencing of a β-Thalassemia Gene from South China

W. H. Lo, S. Huang, R. Cai, 1988 .

Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.

Li Jiang, Miao Sun, Qing Liu, 2004, The Journal of investigative dermatology.

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

W. H. Lo, M. Jiang, Xue Zhang, 2006, Human Genetics.

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

W. H. Lo, S. Huang, Y. Zeng, 1992, Genomics.

Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.

W. H. Lo, S. Huang, Y. Zeng, 1991, American journal of human genetics.

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.

W. H. Lo, S. Huang, Y. Zeng, 1991, Genomics.

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

W. H. Lo, S. Huang, Y. Zeng, 1989, American journal of human genetics.

Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria

W. H. Lo, Y. Song, L. Jiang, 2006, The British journal of dermatology.

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

Li Jiang, Miao Sun, W. H. Lo, 2008, Journal of Human Genetics.

DSPP mutation in dentinogenesis imperfecta Shields type II

Yan Shen, W. H. Lo, B. Qiang, 2001, Nature Genetics.

Association between genetic variation of CACNA1H and childhood absence epilepsy

Zhijian Yao, Yan Shen, P. Chan, 2003, Annals of neurology.