Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

• প্রধান লেখক: Slater Howard R (Author), Rowell Margaret (Author), Francis David I (Author), Northrop Emma (Author), Albalwi Mohammed (Author), Schüle Birgitt (Author), Gardner RJ McKinlay (Author), Francke Uta (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2005-05-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparenta...