Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.

Abstract:

: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. Physical mapping of the critical chromosomal region finally showed that the NGFR gene lies outside the MKS locus.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Wartiovaara K,Paavola P,Suvanto P,Paulin L,Saarma M,Peltonen L,Sariola H

doi

10.1097/00019605-199707000-00003

subject

Has Abstract

pub_date

1997-07-01 00:00:00

pages

213-7

issue

3

eissn

0962-8827

issn

1473-5717

journal_volume

6

pub_type

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