A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Neural tube defects (NTD) are among the most prevalent congenital malformations in man. Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factor...

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Bibliografische gegevens
Hoofdauteurs: Hol, F A, Hamel, B C, Geurds, M P, Mullaart, R A, Barr, F G, Macina, R A, Mariman, E C
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1995
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050180/
https://ncbi.nlm.nih.gov/pubmed/7897628
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