Article
Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.
Clinical dysmorphology - 1 Jul 1997
Wartiovaara K, Paavola P, Suvanto P, Paulin L, Saarma M, Peltonen L, Sariola H
Abstract excerpt
Nerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of the coding region of the gene revealed one polymorphism but no potential disease mutation....
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