Literature DB >> 6437964

Genetic linkage between erythrokeratodermia variabilis and Rh locus.

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.   

Abstract

A genetic linkage study was performed in a large Dutch kindred with erythrokeratodermia variabilis (EKV, McKusick no. 13320). The autosomal-dominant trait appeared to segregate rather consistently with the cde (r) gene complex of the Rh system. Only one recombinant was found amongst 27 informative individuals. Lod score calculations gave strong evidence for close linkage between the loci for EKV and Rh (with a maximum lod score of 5.55 at a recombination fraction of 0.044).

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6437964     DOI： 10.1007/bf00279308

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


  12 in total

1.  Fourteen cases of erythro-keratodermia figurata variabilis within one family.

Authors:  U W SCHNYDER; D SOMMACAL-SCHOPF
Journal:  Acta Genet Stat Med       Date:  1957

2.  Erythrokeratodermia variabilis. A family study.

Authors:  G B Gewirtzman; N W Winkler; R L Dobson
Journal:  Arch Dermatol       Date:  1978-02

3.  A new estimate of the linkage between the genes for colourblindness and haemophilia in man.

Authors:  J B S HALDANE; C A B SMITH
Journal:  Ann Eugen       Date:  1947-10

4.  International system for human gene nomenclature (1979) ISGN (1979).

Authors:  T B Shows; C A Alper; D Bootsma; M Dorf; T Douglas; T Huisman; S Kit; H P Klinger; C Kozak; P A Lalley; D Lindsley; P J McAlpine; J K McDougall; P Meera Khan; M Meisler; N E Morton; J M Opitz; C W Partridge; R Payne; T H Roderick; P Rubinstein; F H Ruddle; M Shaw; J W Spranger; K Weiss
Journal:  Cytogenet Cell Genet       Date:  1979

5.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

6.  Genetic linkage between the human blood group loci Rh and Sc (Scianna)

Authors:  M Lewis; H Kaita; B Chown
Journal:  Am J Hum Genet       Date:  1976-11       Impact factor: 11.025

Review 7.  Report of the Committee on the Genetic Constitution of Chromosome 1.

Authors:  J L Hamerton; S Povey; N E Morton
Journal:  Cytogenet Cell Genet       Date:  1984

8.  Linkage between alpha-fucosidase and the rhesus blood group.

Authors:  G Corney; R A Fisher; P J Cook; J Noades; E B Robson
Journal:  Ann Hum Genet       Date:  1977-05       Impact factor: 1.670

9.  The position of the Radin blood group locus in relation to other chromosome l loci.

Authors:  M Lewis; H Kaita; S Philipps; E R Giblett; J E Anderson; P J McAlpine; B Nickel
Journal:  Ann Hum Genet       Date:  1980-10       Impact factor: 1.670

10.  Erythrokeratoderma variabilis and variable circinate erythrokeratodermas.

Authors:  D L Cram
Journal:  Arch Dermatol       Date:  1970-01
View more
  4 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.  Further evidence for localization of the gene of erythrokeratodermia variabilis.

Authors:  J G van der Schroeff; I van Leeuwen-Cornelisse; A van Haeringen; L N Went
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

Review 4.  The immuno-oncological challenge of COVID-19.

Authors:  Lisa Derosa; Cléa Melenotte; Franck Griscelli; Bertrand Gachot; Aurélien Marabelle; Guido Kroemer; Laurence Zitvogel
Journal:  Nat Cancer       Date:  2020-10-02
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.