Literature DB >> 2319582

Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.

S Keidar1, A Etzioni, J G Brook, R Gershoni-Baruch, M Aviram.   

Abstract

A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial hypobetalipoproteinaemia, but his father had a normal lipoprotein profile. This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.

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Year:  1990        PMID： 2319582      PMCID： PMC1016936          DOI： 10.1136/jmg.27.2.133

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


  5 in total

1.  On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.

Authors:  H B SALT; O H WOLFF; J K LLOYD; A S FOSBROOKE; A H CAMERON; D V HUBBLE
Journal:  Lancet       Date:  1960-08-13       Impact factor: 79.321

2.  The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family.

Authors:  J J Biemer; R E McCammon
Journal:  J Lab Clin Med       Date:  1975-04

3.  Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.

Authors:  F A BASSEN; A L KORNZWEIG
Journal:  Blood       Date:  1950-04       Impact factor: 22.113

4.  Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.

Authors:  G M Berger; G Brown; H E Henderson; F Bonnici
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

5.  Platelet function in a case with abetalipoproteinemia.

Authors:  M Aviram; R J Deckelbaum; J G Brook
Journal:  Atherosclerosis       Date:  1985-11       Impact factor: 5.162
  5 in total
  1 in total

1.  Analysis of long-lived C. elegans daf-2 mutants using serial analysis of gene expression.

Authors:  Julius Halaschek-Wiener; Jaswinder S Khattra; Sheldon McKay; Anatoli Pouzyrev; Jeff M Stott; George S Yang; Robert A Holt; Steven J M Jones; Marco A Marra; Angela R Brooks-Wilson; Donald L Riddle
Journal:  Genome Res       Date:  2005-04-18       Impact factor: 9.043
  1 in total

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