Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 3
Results: 31
Erratum.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 337, doi. 10.1002/humu.1380030331
- Publication type:
- Article
A novel deletion in exon 15 of the adenomatous polyposis coli gene in an Italian kindred.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 301, doi. 10.1002/humu.1380030320
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- Article
Editorial.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 171, doi. 10.1002/humu.1380030302
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- Article
A double-variant transthyretin allele (SER 6, ILE 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 254, doi. 10.1002/humu.1380030313
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- Article
Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 315, doi. 10.1002/humu.1380030324
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- Article
Mutations in PAX3 associated with waardenburg syndrome type I.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 205, doi. 10.1002/humu.1380030306
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- Publication type:
- Article
Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 283, doi. 10.1002/humu.1380030317
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- Article
A cystic fibrosis patient with ΔF508, G542X and a deletion at the D7S8 locus.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 327, doi. 10.1002/humu.1380030328
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- Publication type:
- Article
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH).
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 333, doi. 10.1002/humu.1380030330
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- Publication type:
- Article
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 231, doi. 10.1002/humu.1380030309
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- Publication type:
- Article
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 243, doi. 10.1002/humu.1380030311
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- Publication type:
- Article
Masthead.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. fmi, doi. 10.1002/humu.1380030301
- Publication type:
- Article
A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 309, doi. 10.1002/humu.1380030322
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- Publication type:
- Article
Transcriptional regulation of gene expression: Mechanisms and pathophysiology.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 180, doi. 10.1002/humu.1380030304
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- Article
Allele frequency data for VNTR locus D17S79: Identification of an internal HaeIII polymorphism in the black population.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 248, doi. 10.1002/humu.1380030312
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- Publication type:
- Article
Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 312, doi. 10.1002/humu.1380030323
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- Publication type:
- Article
Description and functional implications of a novel mutation in the sex-determining gene SRY.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 200, doi. 10.1002/humu.1380030305
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- Publication type:
- Article
Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 324, doi. 10.1002/humu.1380030327
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- Publication type:
- Article
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 275, doi. 10.1002/humu.1380030316
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- Publication type:
- Article
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 268, doi. 10.1002/humu.1380030315
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- Article
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 321, doi. 10.1002/humu.1380030326
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- Article
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14).
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 223, doi. 10.1002/humu.1380030308
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- Publication type:
- Article
Nonsense mutation in the homeobox region of the aniridia gene.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 297, doi. 10.1002/humu.1380030319
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- Publication type:
- Article
Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 239, doi. 10.1002/humu.1380030310
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- Publication type:
- Article
A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 305, doi. 10.1002/humu.1380030321
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- Publication type:
- Article
Detection of point mutations by solid-phase methods.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 172, doi. 10.1002/humu.1380030303
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- Publication type:
- Article
A single base mutation in the type II procollagen gene (COL2A1) that converts glycine α1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 261, doi. 10.1002/humu.1380030314
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- Publication type:
- Article
The ornithine transcarbamylase gene: New 'Private' mutations in four patients and study of a polymorphism.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 318, doi. 10.1002/humu.1380030325
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- Article
Infrequent mutation of the WT1 gene in 77 Wilms' tumors.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 212, doi. 10.1002/humu.1380030307
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- Publication type:
- Article
A rapid and simple DNA fingerprinting method using RLFP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 292, doi. 10.1002/humu.1380030318
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- Article
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 330, doi. 10.1002/humu.1380030329
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- Publication type:
- Article