A 90 kb DNA deletion associated with neurofibromatosis type 1.

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrel...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Upadhyaya, M, Cheryson, A, Broadhead, W, Fryer, A, Shaw, D J, Huson, S, Wallace, M R, Andersen, L B, Marchuk, D A, Viskochil, D
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 1990
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017276/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2127432/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.12.738
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