Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 10
Results: 66
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1762
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Author index.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1761
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New human DNA polymorphisms submitted to the genome data base.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1757
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An STR polymorphism at the CYBB locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1755
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Dinucleotide repeat polymorphism at the D5S214 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1754
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Dinucleotide repeat polymorphism at the D12S371 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1754
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Amino acid dimorphism in IL1A is detectable by PCR amplification.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1753
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Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1753
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A (CA)n repeat polymorphism at the 5′ end of the α1antitrypsin gene (PI).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
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A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
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Dinucleotide repeat polymorphism at the D14S294 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1751
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Population variation in the dinucleotide repeat polymorphism at the D8S360 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1751
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A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1750
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Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1750
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A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1749
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Dinucleotide repeat polymorphism at the D22S351 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1749
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Dinucleotide repeat polymorphism in the interferon regulating factor 1 (IRF1) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1748
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CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D1 3S308).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1748
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Dinucleotide repeat polymorphism at the D18S365 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1747
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Dinucleotide repeat polymorphism at D11S994 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1747
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A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1746
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Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1746
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Four dinucleotide repeat polymorphisms on human chromosome 16.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1745
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Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1744
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Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1743
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Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1741
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Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1739
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Protein truncation test (PTT) for rapid detection of translation-terminating mutations.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1719
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A novel point mutation (D380A) and a rare deletion (1255deI55) in the glucocerebrosidase gene causing Gaucher's disease.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1737
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Screening for polymorphism in the tyrosine-sulfated region of human C4.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1733
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Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the β-myosin heavy chain gene in hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1731
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Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1727
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Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1723
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Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1735
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Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1717
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Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1713
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Characterization of a single base-pair deletion in neurofibromatosis type 1.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1709
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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1703
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Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1697
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Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1651
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Paternal nondisjunction in trisomy 21: excess of male patients.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1691
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Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1679
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Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1673
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Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1667
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High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1659
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Timing of p53 mutations during astrocytoma tumorigenesis.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1687
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Long-range analyses of the centromeric regions of human chromosomes 13, 14 and 21: identification of a narrow domain containing two key centromeric DNA elements.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1639
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Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1633
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Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1629
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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1625
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