New human DNA polymorphisms submitted to the genome data base.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1757
- Publication type:
- Article
Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 10
Results: 66
1
2
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1762
- By:
- Publication type:
- Article
3
Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1761
- Publication type:
- Article
4
A (CA)n repeat polymorphism at the 5′ end of the α1antitrypsin gene (PI).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
- By:
- Publication type:
- Article
5
Dinucleotide repeat polymorphism at the D5S214 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1754
- By:
- Publication type:
- Article
6
Dinucleotide repeat polymorphism at the D12S371 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1754
- By:
- Publication type:
- Article
7
Amino acid dimorphism in IL1A is detectable by PCR amplification.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1753
- By:
- Publication type:
- Article
8
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1753
- By:
- Publication type:
- Article
9
An STR polymorphism at the CYBB locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1755
- By:
- Publication type:
- Article
10
A (CA)n repeat polymorphism in the protein C inhibitor (PCI) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1752
- By:
- Publication type:
- Article
11
Dinucleotide repeat polymorphism at the D14S294 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1751
- By:
- Publication type:
- Article
12
Population variation in the dinucleotide repeat polymorphism at the D8S360 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1751
- By:
- Publication type:
- Article
13
A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1750
- By:
- Publication type:
- Article
14
Taql and Pstl RFLPs in the von Hippel–Lindau disease gene (VHL).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1750
- By:
- Publication type:
- Article
15
A dinucleotide repeat polymorphism at the ribosomal protein S6 (RPS6) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1749
- By:
- Publication type:
- Article
16
Dinucleotide repeat polymorphism at the D22S351 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1749
- By:
- Publication type:
- Article
17
Dinucleotide repeat polymorphism in the interferon regulating factor 1 (IRF1) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1748
- By:
- Publication type:
- Article
18
CAT repeat polymorphism in a human expressed sequence tag (EST00444) (D1 3S308).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1748
- By:
- Publication type:
- Article
19
Dinucleotide repeat polymorphism at the D18S365 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1747
- By:
- Publication type:
- Article
20
Dinucleotide repeat polymorphism at D11S994 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1747
- By:
- Publication type:
- Article
21
A polymorphism in the coding region of the vasopressin type 2 receptor (AVPR2) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1746
- By:
- Publication type:
- Article
22
Dinucleotide repeat polymorphisms in the VHL region of human chromosome 3p25.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1746
- By:
- Publication type:
- Article
23
A novel point mutation (D380A) and a rare deletion (1255deI55) in the glucocerebrosidase gene causing Gaucher's disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1737
- By:
- Publication type:
- Article
24
Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1744
- By:
- Publication type:
- Article
25
Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1743
- By:
- Publication type:
- Article
26
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1741
- By:
- Publication type:
- Article
27
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1739
- By:
- Publication type:
- Article
28
Four dinucleotide repeat polymorphisms on human chromosome 16.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1745
- By:
- Publication type:
- Article
29
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1735
- By:
- Publication type:
- Article
30
Screening for polymorphism in the tyrosine-sulfated region of human C4.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1733
- By:
- Publication type:
- Article
31
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.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1731
- By:
- Publication type:
- Article
32
Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1727
- By:
- Publication type:
- Article
33
Detection of growth hormone gene deletions by PCR of the hGH-N gene in isolated growth hormone deficiency.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1723
- By:
- Publication type:
- Article
34
Protein truncation test (PTT) for rapid detection of translation-terminating mutations.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1719
- By:
- Publication type:
- Article
35
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1717
- By:
- Publication type:
- Article
36
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.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1713
- By:
- Publication type:
- Article
37
Characterization of a single base-pair deletion in neurofibromatosis type 1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1709
- By:
- Publication type:
- Article
38
Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1673
- By:
- Publication type:
- Article
39
Binding of the ubiquitous nuclear transcription factor YY1 to a cis regulatory sequence in the human LINE-1 transposable element.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1697
- By:
- Publication type:
- Article
40
Paternal nondisjunction in trisomy 21: excess of male patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1691
- By:
- Publication type:
- Article
41
Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1651
- By:
- Publication type:
- Article
42
Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1679
- By:
- Publication type:
- Article
43
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1703
- By:
- Publication type:
- Article
44
Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1667
- By:
- Publication type:
- Article
45
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1659
- By:
- Publication type:
- Article
46
Timing of p53 mutations during astrocytoma tumorigenesis.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1687
- By:
- Publication type:
- Article
47
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.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1639
- By:
- Publication type:
- Article
48
Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1633
- By:
- Publication type:
- Article
49
Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1629
- By:
- Publication type:
- Article
50
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1625
- By:
- Publication type:
- Article