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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mutational analysis of the BMP-1 gene in patients with gastroschisis.

BACKGROUND: Gastroschisis is a rare abdominal wall defect. Although the pathogenesis of gastroschisis is unknown, there is some evidence of the genetic etiology of gastroschisis. Recently, a functionally null deletion of the mouse bone morphogenic protein-1 ( BMP-1) gene resulted in a phenotype that resembled a human neonate with gastroschisis. BMP-1 thus became the first potential candidate gene for gastroschisis. METHODS: To explore this possibility the authors collected blood samples from 11 patients who had gastroschisis. Mutational analysis of exons 2 to 15 of the human BMP-1 gene was performed using genomic polymerase chain reaction, single-strand conformation polymorphism analysis and direct sequencing methods. RESULTS: No mutation of the human BMP-1 gene was observed in any of these patients. CONCLUSION: Although heterogeneous etiologies might be proposed for gastroschisis, our results provide further evidence of a nongenetic etiology for gastroschisis. J Pediatr Surg 36:885-887.[1]

References

  1. Mutational analysis of the BMP-1 gene in patients with gastroschisis. Komuro, H., Mori, M., Hayashi, Y., Fukagawa, M., Makino , S., Takahara, K., Greenspan, D.S., Momoi, M.Y. J. Pediatr. Surg. (2001) [Pubmed]
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