Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 1
Results: 19
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 33, doi. 10.1093/hmg/7.1.33
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- Article
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 141, doi. 10.1093/hmg/7.1.141
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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 53, doi. 10.1093/hmg/7.1.53
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Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 43, doi. 10.1093/hmg/7.1.43
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- Article
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 121, doi. 10.1093/hmg/7.1.121
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- Article
Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 75, doi. 10.1093/hmg/7.1.75
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- Article
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 129, doi. 10.1093/hmg/7.1.129
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Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 63, doi. 10.1093/hmg/7.1.63
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- Article
Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 1, doi. 10.1093/hmg/7.1.1
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A genome scan for loci influencing total serum immunoglobulin levels: possible linkage of IgA to the chromosome 13 atopy locus.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 27, doi. 10.1093/hmg/7.1.27
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- Article
Emerin deletions occurring on both Xq28 inversion backgrounds.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 135, doi. 10.1093/hmg/7.1.135
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- Article
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr[sup b] interval of the mouse Y chromosome of the Dffry gene.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 97, doi. 10.1093/hmg/7.1.97
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- Article
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 85, doi. 10.1093/hmg/7.1.85
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- Article
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 149, doi. 10.1093/hmg/7.1.149
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- Article
In vitro reactivation of the FMR1 gene involved in fragile X syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 109, doi. 10.1093/hmg/7.1.109
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- Article
Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 13, doi. 10.1093/hmg/7.1.13
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- Article
Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 69, doi. 10.1093/hmg/7.1.69
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- Article
The mouse H19 locus mediates a transition between imprinted and non-imprinted DNA replication patterns.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 91, doi. 10.1093/hmg/7.1.91
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- Article
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 115, doi. 10.1093/hmg/7.1.115
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- Article