Literature DB >> 8088810

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

S Markiewicz1, A Subtil, A Dautry-Varsat, A Fischer, G de Saint Basile.   

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Year:  1994        PMID： 8088810     DOI： 10.1006/geno.1994.1265

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  5 in total

1.  Defects in RNA splicing and the consequence of shortened translational reading frames.

Authors:  L E Maquat
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

2.  Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.

Authors:  I Tsuge; H Matsuoka; T Abe; Y Kamachi; S Torii
Journal:  Eur J Pediatr       Date:  1996-12       Impact factor: 3.183

3.  Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

Authors:  P A Clark; T Lester; S Genet; A M Jones; R Hendriks; R J Levinsky; C Kinnon
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

4.  Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

Authors:  A E Pepper; R H Buckley; T N Small; J M Puck
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025

5.  Gene analysis of seven cases of primary immunodeficiency.

Authors:  Ying Zhu; Li Li; Guoshun Mao; Lei Zhang; Jing Wang; Nannan Li
Journal:  Transl Pediatr       Date:  2020-04
  5 in total

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