Works matching IS 09646906 AND DT 1994 AND VI 3 AND IP 7
Results: 50
CORRIGENDUM.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1214
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Author index.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1213
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Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1212
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Dinucleotide repeat polymorphism at D1S556.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1211
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Dinucleotide repeat polymorphism in the TGFB2 gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1211
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Polymorphism in exon M7 of the PTHR gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1210
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Dinucleotide repeat polymorphism at the D6S510 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1210
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A trinucleotide repeat polymorphism in XT00444 (D13S635E).
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1209
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Tetranucleotide repeat polymorphism at the D8S639 locus.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1209
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Xhol and Sphl RFLPs in the GALNS gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1208
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Polymorphism in the GALNS gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1208
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Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1207
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Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1205
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Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1203
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An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1201
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Identification of the L927P and ΔL1260 mutations in the CFTR gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1199
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Maternal anticipation of DRPLA.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1197
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Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1195
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Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1193
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A novel donor splice site mutation associated with two mRNAs in von Hippel — Lindau disease.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1191
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A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1187
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Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1185
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New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1183
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Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1173
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Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1179
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Topologically equivalent mutations causing dysfunctional coagulation factors VII (Ala→Val) and X (Ser→ Pro).
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1175
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Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys→Phe substitution in the second zinc finger of the androgen receptor.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1169
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A novel mutation of Leu to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1171
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Identification of a novel germline mutation in a FAP family.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1167
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Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1163
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A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1155
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X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1151
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Localization of the gene whose mutations underlie Hailey—Hailey disease to chromosome 3q.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1147
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Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1141
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A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1133
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Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1129
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Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1123
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Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1117
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Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1109
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Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1103
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Physical linkage of expressed sequence tags (ESTs) to polymorphic markers on the X chromosome.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1095
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Analysis of the mouse and rat CFTR promoter regions.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1089
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A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1081
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Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1075
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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1069
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Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1061
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Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1053
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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1047
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Cloning and characterization of the human choroideremia gene.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1041
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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1035
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