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Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.

Autosomal recessive and dominant inheritance of proximal spinal muscular atrophy (SMA) are well documented. Several genetic studies found a significant deviation from the assumption of recessive inheritance in SMA, with affected children in one generation. The existence of new autosomal dominant mut...

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Bibliografske podrobnosti
Main Authors: Rudnik-Schöneborn, S., Wirth, B., Zerres, K.
Format: Artigo
Jezik:Inglês
Izdano: 1994
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918229/
https://ncbi.nlm.nih.gov/pubmed/8023839
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