Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 13
Results: 22
Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2089
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- Article
Mosaicism in sporadic neurofibromatosis 2 patients.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2051
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- Article
The origin and evolution of the pseudoautosomal regions of human sex chromosomes.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2039
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- Article
NF2 gene in neurofibromatosis type 2 patients.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Mitochondrial tRNA[sup Leu] isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2141
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- Publication type:
- Article
A C-terminal di-leucine is required for localization of the Menkes protein in the trans -Golgi network.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
LCR-dependent gene expression in β-globin YAC transgenics: detailed structural studies validate functional analysis even in the presence of fragmented YACs.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
De novo mutations and allelic diversity at minisatellite locus D7S22 investigated by allele-specific four-state MVR-PCR analysis.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2113
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- Article
Promoter of mDMAHP /Six5 : differential utilization of multiple transcription initiation sites and positive/negative regulatory elements.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2121
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- Publication type:
- Article
3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2135
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- Publication type:
- Article
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2129
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- Publication type:
- Article
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approachto predict gene function.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene ( wolframin) coding for a predicted transmembrane protein.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Characterization of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2149
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- Publication type:
- Article
LIS1 and XLIS ( DCX ) mutations cause most classical lissencephaly, but different patterns of malformation.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
Cloning and characterization of Krct, a member of a novel subfamily of serine/threonine kinases.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article