Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually depe...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Cobben, J M, de Visser, M, Scheffer, H, Osinga, J, van der Steege, G, Buys, C H, van Ommen, G J, ten Kate, L P
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1993
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1014873/
https://ncbi.nlm.nih.gov/pubmed/8459253
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