A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 334, doi. 10.1038/sj.ejhg.5200807
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- Publication type:
- Article
Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 5
Results: 8
1
2
Combined segregation and linkage analysis of HLA markers in familial psoriasis.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 327, doi. 10.1038/sj.ejhg.5200810
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- Publication type:
- Article
3
Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the β globin gene.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 320, doi. 10.1038/sj.ejhg.5200809
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- Publication type:
- Article
4
Comparison of family based haplotype methods using intragenic SNPs in candidate genes.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 313, doi. 10.1038/sj.ejhg.5200808
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- Publication type:
- Article
5
Guidelines for the appropriate use of genetic tests in infertile couples.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 303, doi. 10.1038/sj.ejhg.5200805
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- Publication type:
- Article
6
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 297, doi. 10.1038/sj.ejhg.5200804
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- Publication type:
- Article
7
Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 292
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- Publication type:
- Article
8
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 5, p. 289, doi. 10.1038/sj.ejhg.5200793
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- Publication type:
- Article