Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

Dna Analysis, Molecular Biology, Dna Heteroduplexes +17

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)

Takahiro Hamada · Human Molecular Genetics · 2002 · 300 citations

Genetics, Pathology, Lipoid Proteinosis +19

Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells

Zeqiu Han, Jian Ni, Patrick Smits et al. · The FASEB Journal · 2001 · 147 citations

Pathology, Angiogenic Properties, Cancer Biology +16

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Lisa A. Schimmenti, Heather E. Cunliffe, Leslie A. McNoe et al. · PubMed · 1997 · 147 citations