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Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1137
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- Article
Fine structure of the human FMR1 gene.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1147
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Mutation of human short tandem repeats.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1123
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Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1129
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Alternative splicing in the fragile X gene FMR1.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1348
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A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1347
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Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1347
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Author index.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1345
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- Article
New human DNA polymorphisms submitted to the genome data base.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1335
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- Article
SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1333
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A triplet repeat polymorphism in a gene expressed in human hypothalamus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1332
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Dinucleotide repeat polymorphism at the D11S995 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1332
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A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1331
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Bg/ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1331
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Generation of band-specific painting probes from a single microdissected chromosome.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1117
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Dinucleotide repeat polymorphism at the D10S469 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1330
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Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1330
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A new VNTR polymorphism at locus D1S340.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1329
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Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230).
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1329
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A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1328
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Trinucleotide repeat polymorphism at the D5S556 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1328
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Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1327
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Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1326
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Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1325
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Three Mspl polymorphisms at the UGT1 locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1324
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Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2).
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1323
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Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1319
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Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1317
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Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1315
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Severe splice site mutation preceding exon 9 of the CFTR gene.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1313
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Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1311
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A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1309
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A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1307
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The high frequency of TTR M in familial amyloidotic polyneuropathy is not due to a founder effect.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1303
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High frequency gene targeting using insertional vectors.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1299
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X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1295
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McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1291
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Presence of the Mediterranean PKU mutation IVS10 in Latin America.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1289
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The development of sequence-tagged sites for human chromosome 4.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1271
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The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1267
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Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1263
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Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1253
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Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1245
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Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1235
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Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1229
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No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1221
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Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1215
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Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1209
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Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1205
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A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1201
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