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Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions

Homologous recombination between poorly characterized regions flanking the NF1 locus causes the constitutional loss of ∼1.5 Mb from 17q11.2 covering ⩾11 genes in 5%–20% of patients with neurofibromatosis type 1 (NF1). To elucidate the extent of microheterogeneity at the deletion boundaries, we used...

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Bibliografiska uppgifter
Huvudupphovsmän: Jenne, Dieter E., Tinschert, Sigrid, Reimann, Heike, Lasinger, Wolfgang, Thiel, Gundula, Hameister, Horst, Kehrer-Sawatzki, Hildegard
Materialtyp: Artigo
Språk:Inglês
Publicerad: The American Society of Human Genetics 2001
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235482/
https://ncbi.nlm.nih.gov/pubmed/11468690
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