Jean-Claude Kaplan

TL;DR: The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.

TL;DR: It is reported here that efficient in vitro co-amplifications of the mRNAs of the dystrophin gene and of a reporter gene, aldolase A, by the poly-merase chain reaction procedure enables us to obtain a quantitative estimate of the DystrophIn gene transcript.

TL;DR: Using in vitro amplification of cDNA by the polymerase chain reaction, this paper detected spliced transcripts of various tissue-specific genes (genes for anti-Mullerian hormone, beta-globin, aldolase A, and factor VIIIc) in human nonspecific cells, such as fibroblasts, hepatoma cells, and lymphoblasts.

TL;DR: In this paper, persistent exon skipping was used to remove the mutated exon on the dystrophin messenger mRNA of the mdx mouse, by a single administration of an AAV vector expressing antisense sequences linked to a modified U7 small nuclear RNA.

TL;DR: An expert panel to examine the technical problems involved in the performance of redcell enzyme assays concluded that the development of ‘recommended methods’ for the assaying of red-cell enzymes would be useful primarily in two ways: they will provide laboratories not now performing red- cell enzyme Assays with reliable, convenient, and extensively tested techniques; and they will provided a means by which different laboratories can compare their results.