Mammalian Genome 10, 419–422 (1999). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1999 1 1 2 3 Rudi A.C. van de Wetering, Anneke A.W.M. Gabree ¨ls-Festen, Hannie Kremer, Vera M. Kalscheuer, 1 2 Fons J.M. Gabree ¨ls, Edwin C. Mariman Institute of Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands Dept. of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands Max-Planck-Institut fu ¨ r Molekulare Genetik, Berlin (Dahlem), Germany Received: 6 July 1998 / Accepted: 23 November 1998 Mutations in the gene encoding the peripheral myelin protein Comparison of the promoter sequences with the Eukaryotic Pro- PMP22 account for several hereditary neuropathies in human and moter Database (EPD) with the FASTA-program shows homology mouse. Overexpression through a duplication of a 1.5 Mb region of the 1A promoter with several promoters active in skeletal of Chr 17p11.2-12 encompassing the PMP22 gene is by far the muscle, lung, spermatids, and heart (not shown), in accordance most common cause of Charcot-Marie-Tooth disease type 1A with the expression pattern seen for CD25. Overall, the 1A pro- (CMT1A). Underexpression of PMP22 through the reciprocal de- moter contains elements that are commonly present in genes with letion is the major
Mammalian Genome – Springer Journals
Published: Apr 1, 1999
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera