Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 3
Results: 14
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 205, doi. 10.1007/s004390000369
- By:
- Publication type:
- Article
Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 216, doi. 10.1007/s004390000368
- By:
- Publication type:
- Article
Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 210, doi. 10.1007/s004390000365
- By:
- Publication type:
- Article
Fusion of 9 beta-satellite and telomere (TTAGGG)<sup>n</sup> sequences results in a jumping translocation.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 268, doi. 10.1007/s004390000360
- By:
- Publication type:
- Article
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 243, doi. 10.1007/s004390000356
- By:
- Publication type:
- Article
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 234, doi. 10.1007/s004390000362
- By:
- Publication type:
- Article
Anticipation in familial Hodgkin's lymphoma.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 290, doi. 10.1007/s004390000376
- By:
- Publication type:
- Article
The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect.
- Published in:
- 2000
- By:
- Publication type:
- Erratum
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 276, doi. 10.1007/s004390000350
- By:
- Publication type:
- Article
Mutation analysis in glycogen storage disease type 1 non-a.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 285, doi. 10.1007/s004390000371
- By:
- Publication type:
- Article
Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 257, doi. 10.1007/s004390000367
- By:
- Publication type:
- Article
Association of ACE I/D polymorphism with cardiovascular risk factors.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 239, doi. 10.1007/s004390000358
- By:
- Publication type:
- Article
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 225, doi. 10.1007/s004390000357
- By:
- Publication type:
- Article
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 249, doi. 10.1007/s004390000375
- By:
- Publication type:
- Article