H. Lam

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

Jonathan O’Driscoll, G. C. Muston, John A. McGrath et al. · Clinical and Experimental Dermatology · 2002 · 44 citations

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

H. Lam, Laryssa Dragan, Hui C. Tsou et al. · Human Genetics · 1996 · 27 citations

Biology, Plant Biology, Plant Molecular Biology +7

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Joachim Frank, Xiaofeng Wang, H. Lam et al. · Annals of Human Genetics · 1998 · 24 citations

Genetics, Haplotype Analysis, Molecular Genetics +17

Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis

Julide Tok, Maria C. Garzón, Peter B. Cserhalmi‐Friedman et al. · Experimental Dermatology · 1999 · 13 citations · Full text

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions

M. Massé, Amalia Martı́nez-Mir, H. Lam et al. · Clinical and Experimental Dermatology · 2005 · 10 citations

Recurrent Mutation, Allelic Variant, Mendelian Disorder +15