Literature DB >> 3417312

Further evidence for localization of the gene of erythrokeratodermia variabilis.

J G van der Schroeff1, I van Leeuwen-Cornelisse, A van Haeringen, L N Went.   

Abstract

Close genetic linkage between erythrokeratodermia variabilis (EKV) and the Rh blood group system has been reported by our group. Here we describe the results of a linkage analysis in another EKV kindred, in which the disease segregated with the CDe genotype. Among 18 informative individuals, 1 recombinant was found. A maximum lod score of 4.21 was calculated at a recombination fraction of 0.03-0.04. Addition of this lod score to the earlier reported results gives a maximum lod score of 9.93 for linkage between EKV and Rh at a recombination fraction of 0.03 (95% confidence limits 0.008-0.11).

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Year:  1988        PMID： 3417312     DOI： 10.1007/BF00451466

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

2.  Genetic linkage between erythrokeratodermia variabilis and Rh locus.

Authors:  J G van der Schroeff; L E Nijenhuis; P Meera Khan; L F Bernini; G M Schreuder; E van Loghem; W S Volkers; L N Went
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Erythrokeratoderma variabilis and variable circinate erythrokeratodermas.

Authors:  D L Cram
Journal:  Arch Dermatol       Date:  1970-01
  3 in total
  5 in total

Review 1.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

2.  The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.

Authors:  A Ishida-Yamamoto; J A McGrath; H Lam; H Iizuka; R A Friedman; A M Christiano
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Authors:  V P Sybert; J S Francis; L D Corden; L T Smith; M Weaver; K Stephens; W H McLean
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

4.  Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Authors:  F Macari; M Landau; P Cousin; B Mevorah; S Brenner; R Panizzon; D F Schorderet; D Hohl; M Huber
Journal:  Am J Hum Genet       Date:  2000-10-03       Impact factor: 11.025

5.  Cloning, chromosomal mapping and characterization of the human metal-regulatory transcription factor MTF-1.

Authors:  E Brugnera; O Georgiev; F Radtke; R Heuchel; E Baker; G R Sutherland; W Schaffner
Journal:  Nucleic Acids Res       Date:  1994-08-11       Impact factor: 16.971
  5 in total

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