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Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1911
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Tetranucleotide repeat polymorphism at the D8S492 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1913
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A transcript map of the Down syndrome critical region on chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1735
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Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1918
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Author index.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1917
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- Article
Polymorphism of the HLA-90 new class I gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1916
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Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1916
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GA repeat polymorphism at the PRM2 male fertility locus.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1915
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Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1915
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A Bg/II polymorphism in the COL4A6 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1914
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Dinucleotide repeat polymorphism at the NF2 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1914
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The same polymorphism identified by the DXS571(B) and DXS1105 loci.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1913
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A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1912
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A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1909
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Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1903
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Novel small mutations along the DMD/BMD gene associated with different phenotypes.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1907
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Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1899
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Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1901
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Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1891
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RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1895
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Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1883
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Identification of a new frameshift mutation (1801delAG) in the ALD gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1889
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Identification of a novel paternally expressed gene in the Prader - Willi syndrome region.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1877
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A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1887
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Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1873
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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1867
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Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1855
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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1859
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MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1841
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Sequence organization of the human chromosome 2q telomere.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1847
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Identification of two mutant alleles of transcobalamin II in an affected family.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1835
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Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1757
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The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1833
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9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1829
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1823
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A heat shock gene at 14q22: mapping and expression.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1819
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A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1811
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Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1807
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High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1801
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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1795
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The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1789
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Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1783
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The phospholipase C β3 gene located in the MEN1 region shows loss of expression in endocrine tumours.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1775
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Haplotype analysis of MEN 2 mutations.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1771
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Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1763
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Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1743
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Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1751
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Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1725
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Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.
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- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1717
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