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PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

From studies in the mouse and from the clinical and molecular analysis of patients with type 1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors in the aetiology of human neural tube defects (NTD). To investigate the role of PAX1, PAX3, PAX7, and PAX9, allelic ass...

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Detalhes bibliográficos
Main Authors: Hol, F A, Geurds, M P, Chatkupt, S, Shugart, Y Y, Balling, R, Schrander-Stumpel, C T, Johnson, W G, Hamel, B C, Mariman, E C
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050699/
https://ncbi.nlm.nih.gov/pubmed/8863157
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