Literature DB >> 8105085

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

R Arngrimsson1, I Dokal, L Luzzatto, J M Connor.   

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

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Year:  1993        PMID： 8105085      PMCID： PMC1016470          DOI： 10.1136/jmg.30.7.618

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  1 in total

1.  Iron overload in Africa. Interaction between a gene and dietary iron content.

Authors:  V Gordeuk; J Mukiibi; S J Hasstedt; W Samowitz; C Q Edwards; G West; S Ndambire; J Emmanual; N Nkanza; Z Chapanduka
Journal:  N Engl J Med       Date:  1992-01-09       Impact factor: 91.245
  1 in total
  5 in total

1.  Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

Authors:  K Devriendt; G Matthijs; E Legius; E Schollen; D Blockmans; C van Geet; H Degreef; J J Cassiman; J P Fryns
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

2.  Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita.

Authors:  A M Ferraris; G L Forni; R Mangerini; G F Gaetani
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

3.  Fine mapping of the dyskeratosis congenita locus in Xq28.

Authors:  S W Knight; T Vulliamy; G L Forni; D Oscier; P J Mason; I Dokal
Journal:  J Med Genet       Date:  1996-12       Impact factor: 6.318

4.  Molecular cloning and characterization of a novel mouse actin-binding protein Zfp185.

Authors:  Na Wang; Quanhui Zheng; Jin-San Zhang; Yong Zhao
Journal:  J Mol Histol       Date:  2008-02-01       Impact factor: 2.611

Review 5.  Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.

Authors:  Saúl Gómez-Manzo; Jaime Marcial-Quino; America Vanoye-Carlo; Hugo Serrano-Posada; Daniel Ortega-Cuellar; Abigail González-Valdez; Rosa Angélica Castillo-Rodríguez; Beatriz Hernández-Ochoa; Edgar Sierra-Palacios; Eduardo Rodríguez-Bustamante; Roberto Arreguin-Espinosa
Journal:  Int J Mol Sci       Date:  2016-12-09       Impact factor: 5.923
  5 in total

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