Article
Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online.
Human mutation - 1 Jan 1998
Mendell J T, Panicker S G, Tsao C Y, Feng B, Sahenk Z, Marzluf G A, Mendell J R
Abstract excerpt
The laminina2-chain gene (LAMA2) encodes a basal lamina protein, laminina2, known to be deficient in one form of congenital muscular dystrophy (CMD). In a laminina2 deficient-CMD patient, we screened the entire LAMA2 cDNA (953bp) by reverse transcriptase polymerase chain reaction combined with si...
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