Hypothesis regarding the nature of the fragile X mutation: A reply to Winter and Pembrey Journal Article


Authors: Brown, W. T.; Sherman, S. L.; Dobkin, C. S.
Article Title: Hypothesis regarding the nature of the fragile X mutation: A reply to Winter and Pembrey
Abstract: Pembrey et al. (1985) proposed a hypothesis regarding the nature of the fragile X [fra(X)] mutation. Recently they analyzed DNA linkage data (Winter and Pembrey 1986) that we and others have published on fra(X) pedigrees, found significant linkage heterogeneity, and modified their hypothesis to explain the observations. We would like to point out that their modified hypothesis is not supported by the data available. © 1987 Springer-Verlag.
Keywords: clinical article; mutation; heredity; editorial; central nervous system; dna; models, genetic; genetic linkage; etiology; fragile x syndrome; human; priority journal; sex chromosome aberrations; congenital disorder; premutation; x chromosome fragility
Journal Title: Human Genetics
Volume: 75
Issue: 3
ISSN: 0340-6717
Publisher: Springer  
Date Published: 1987-03-01
Start Page: 294
End Page: 295
Language: English
DOI: 10.1007/bf00281078
PUBMED: 3557453
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 5 February 2021 -- Source: Scopus
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  1. Stephanie Sherman
    15 Sherman