Author index.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 845
- Publication type:
- Article
Works matching IS 09646906 AND DT 1993 AND VI 2 AND IP 6
Results: 59
1
2
New human DNA polymorphisms submitted to the genome data base.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 831
- Publication type:
- Article
3
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at the D5S524 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 829
- By:
- Publication type:
- Article
4
Trinucleotide repeat polymorphism at the D5S373 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 829
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- Publication type:
- Article
5
Dinucleotide repeat polymorphism in the human CD40 ligand gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 828
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- Publication type:
- Article
6
A polymorphic dinucleotide repeat at the D8S339 locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 828
- By:
- Publication type:
- Article
7
Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating polypeptide (PACAP) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 827
- By:
- Publication type:
- Article
8
(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 827
- By:
- Publication type:
- Article
9
Taql polymorphism in the human thyrotropin receptor gene (TSHR).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 826
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- Publication type:
- Article
10
Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 826
- By:
- Publication type:
- Article
11
D11S971 CATT polymorphism (RC27) located near the MEN1 locus at 11q13.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 825
- By:
- Publication type:
- Article
12
A Scal RFLP at the E-selectin (SELE) locus in a progeria family.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 825
- By:
- Publication type:
- Article
13
A complex single strand conformational polymorphism (SSCP) in the tumor necrosis factor receptor 2 (TNFR2) gene on chromosome 1p36.2.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 824
- By:
- Publication type:
- Article
14
Simple sequence repeat polymorphism in the cartilage matrix protein (CRTM) gene at 1p35.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 824
- By:
- Publication type:
- Article
15
Dinucleotide repeat polymorphism at the D9S126 locus (9p21).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 823
- By:
- Publication type:
- Article
16
Taql and Rsal polymorphisms in the H19 gene (D11S813E).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 823
- By:
- Publication type:
- Article
17
Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 822
- By:
- Publication type:
- Article
18
A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 822
- By:
- Publication type:
- Article
19
Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 821
- By:
- Publication type:
- Article
20
Two independent polymorphisms at the 17β-hydroxysteroid dehydrogenase (EDH17B) gene (17q21).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 821
- By:
- Publication type:
- Article
21
Taql RFLP at norepinephrine transporter protein (NET) locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 820
- By:
- Publication type:
- Article
22
Unusual length polymorphism in human steroid 5α-reductase type 2 gene (SRD5A2).
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 820
- By:
- Publication type:
- Article
23
Three tetrameric repeat polymorphisms on human chromosome 3: D3S1349; D3S1350; D3S1351.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 819
- By:
- Publication type:
- Article
24
Six dinucleotide microsatellite polymorphisms on human chromosome 3.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 817
- By:
- Publication type:
- Article
25
Molecular defect in a patient with pyridoxine-responsive homocystinuria.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 815
- By:
- Publication type:
- Article
26
Autosomal dominant ‘sector’ retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 813
- By:
- Publication type:
- Article
27
A comprehensive CFTR mutation analysis of German cystic fibrosis patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 809
- By:
- Publication type:
- Article
28
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1α subunit.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 805
- By:
- Publication type:
- Article
29
Exon skipping in the E-cadherin gene transcript in metastatic human gastric carcinomas.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 803
- By:
- Publication type:
- Article
30
Testis-Specific, alternative splicing of rodent CFTR mRNA.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 801
- By:
- Publication type:
- Article
31
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 797
- By:
- Publication type:
- Article
32
YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 791
- By:
- Publication type:
- Article
33
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 785
- By:
- Publication type:
- Article
34
1448C mutation linked to the Pv1. 1 genotype in Italian patients with Gaucher disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 781
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- Publication type:
- Article
35
A methylated CpG island 3' in the apolipoprotein-E gene does not repress its transcription.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 775
- By:
- Publication type:
- Article
36
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 767
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- Publication type:
- Article
37
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 761
- By:
- Publication type:
- Article
38
Refined localization and yeast artificial chromosome (YAC) contig—mapping of genes and DNA segments in the 7q21–q32 region.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 751
- By:
- Publication type:
- Article
39
The cloning and expression of a sodium channel β1-subunit cDNA from human brain.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 745
- By:
- Publication type:
- Article
40
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 737
- By:
- Publication type:
- Article
41
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 731
- By:
- Publication type:
- Article
42
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 725
- By:
- Publication type:
- Article
43
Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 717
- By:
- Publication type:
- Article
44
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 711
- By:
- Publication type:
- Article
45
Intergenerational stability of the myotonic dystrophy protomutation.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 705
- By:
- Publication type:
- Article
46
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 701
- By:
- Publication type:
- Article
47
The effect of Robertsonian translocation on recombination on chromosome 21.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 693
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- Publication type:
- Article
48
Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 689
- By:
- Publication type:
- Article
49
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 +1G→T and 711 +1G→T mutations.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 683
- By:
- Publication type:
- Article
50
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 677
- By:
- Publication type:
- Article