Concepedia

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

Takahiro Hamada, Vesarat Wessagowit, Andrew P. South, G H S Ashton, Ien Chan, Noritaka Oyama, Apatorn Siriwattana, Prachiya Jewhasuchin, Somyot Charuwichitratana, Devinder Mohan Thappa,

Journal of Investigative Dermatology · 2003 · 146 citations · 19 references

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19

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

, , +11

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 · 636 citations · Full text

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

Takahiro Hamada · Human Molecular Genetics · 2002 · 302 citations

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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

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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

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