Literature DB >> 7860724

Genetic mosaicism: what Gregor Mendel didn't know.

R Hirschhorn.   

Abstract

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Year:  1995        PMID： 7860724      PMCID： PMC295484          DOI： 10.1172/JCI117682

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  5 in total

Review 1.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

2.  Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

Authors:  R Hirschhorn; D R Yang; A Israni; M L Huie; D R Ownby
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Self-induced correction of the genetic defect in tyrosinemia type I.

Authors:  E A Kvittingen; H Rootwelt; R Berger; P Brandtzaeg
Journal:  J Clin Invest       Date:  1994-10       Impact factor: 14.808

4.  A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

Authors:  M L Huie; A S Chen; S S Brooks; A Grix; R Hirschhorn
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

5.  Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

Authors:  J M Puck; A E Pepper; P M Bédard; R Laframboise
Journal:  J Clin Invest       Date:  1995-02       Impact factor: 14.808
  5 in total
  1 in total

1.  Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Authors:  M C Vincent; C Guiraud-Chaumeil; J Laporte; S Manouvrier-Hanu; J L Mandel
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318
  1 in total

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