Literature DB >> 1379775

Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism.

R A Fleischman.   

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Year:  1992        PMID: 1379775      PMCID: PMC1682724     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  4 in total

1.  W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor.

Authors:  A D Reith; R Rottapel; E Giddens; C Brady; L Forrester; A Bernstein
Journal:  Genes Dev       Date:  1990-03       Impact factor: 11.361

2.  Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

Authors:  R A Fleischman
Journal:  J Clin Invest       Date:  1992-06       Impact factor: 14.808

3.  Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Authors:  R A Spritz; L B Giebel; S A Holmes
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

4.  Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W.

Authors:  K Nocka; J C Tan; E Chiu; T Y Chu; P Ray; P Traktman; P Besmer
Journal:  EMBO J       Date:  1990-06       Impact factor: 11.598

  4 in total

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