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Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

A two year experience of DNA diagnosis for NF1 is presented. Twenty-three NF1 families have been analysed using 11 closely linked and intragenic markers. Prenatal testing was undertaken for six families; 11 affected subjects and their partners wished to know if they would be informative for future p...

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Bibliographische Detailangaben
Veröffentlicht in:J Med Genet
Hauptverfasser: Upadhyaya, M, Fryer, A, MacMillan, J, Broadhead, W, Huson, S M, Harper, P S
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 1992
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015893/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1348093/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.3.180
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