Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 1
Results: 17
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.
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- Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9046
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Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
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- Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9039
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Familial conformational diseases and dementias.
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- Human Mutation, 2002, v. 20, n. 1, p. 1, doi. 10.1002/humu.10100
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Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
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- Human Mutation, 2002, v. 20, n. 1, p. 35, doi. 10.1002/humu.10092
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- Article
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
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- Human Mutation, 2002, v. 20, n. 1, p. 15, doi. 10.1002/humu.10096
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Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 Gene.
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- Human Mutation, 2002, v. 20, n. 1, p. 75, doi. 10.1002/humu.9041
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Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.
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- Human Mutation, 2002, v. 20, n. 1, p. 20, doi. 10.1002/humu.10083
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Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
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- Human Mutation, 2002, v. 20, n. 1, p. 74, doi. 10.1002/humu.9038
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Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.
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- Human Mutation, 2002, v. 20, n. 1, p. 75, doi. 10.1002/humu.9040
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- Article
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.
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- Human Mutation, 2002, v. 20, n. 1, p. 77, doi. 10.1002/humu.9044
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Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
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- Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9045
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Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry.
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- Human Mutation, 2002, v. 20, n. 1, p. 57, doi. 10.1002/humu.10094
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Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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- Human Mutation, 2002, v. 20, n. 1, p. 77, doi. 10.1002/humu.9043
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- Article
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
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- Human Mutation, 2002, v. 20, n. 1, p. 48, doi. 10.1002/humu.10093
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BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.
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- Human Mutation, 2002, v. 20, n. 1, p. 28, doi. 10.1002/humu.10090
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Mutations in Myosin VIIA ( MYO7A) and Usherin ( USH2A) in Spanish patients with usher syndrome types I and II, respectively.
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- Human Mutation, 2002, v. 20, n. 1, p. 76, doi. 10.1002/humu.9042
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- Article
Comparison of DNA- and RNA-Based Methods for Detection of Truncating BRCA1 Mutations.
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- Human Mutation, 2002, v. 20, n. 1, p. 65, doi. 10.1002/humu.10097
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- Article