Literature DB >> 3953671

The fragile (X) syndrome: the mutation problem.

P A Jacobs, S Sherman, G Turner, T Webb.   

Abstract

In an attempt to understand the nature of the mutational event leading to the fra(X) syndrome, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. In all 3 populations there was a dearth of isolated cases, and the reasons for this are discussed.

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Year:  1986        PMID： 3953671     DOI： 10.1002/ajmg.1320230155

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

Authors:  T C Falik-Zaccai; E Shachak; M Yalon; Z Lis; Z Borochowitz; J N Macpherson; D L Nelson; E E Eichler
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

2.  2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.

Authors:  Nancy J Cox
Journal:  Am J Hum Genet       Date:  2018-03-01       Impact factor: 11.025

3.  Further evidence for genetic heterogeneity in the fragile X syndrome.

Authors:  W T Brown; E C Jenkins; A C Gross; C B Chan; M S Krawczun; C J Duncan; S L Sklower; G S Fisch
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132
  3 in total

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