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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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Autors principals: Upadhyaya, M, Fryer, A, MacMillan, J, Broadhead, W, Huson, S M, Harper, P S
Format: Artigo
Idioma:Inglês
Publicat: 1992
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015893/
https://ncbi.nlm.nih.gov/pubmed/1348093
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