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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Upadhyaya, M, Cheryson, A, Broadhead, W, Fryer, A, Shaw, D J, Huson, S, Wallace, M R, Andersen, L B, Marchuk, D A, Viskochil, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1990
Gaiak:
Research Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak