Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 9
Results: 25
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1399, doi. 10.1093/hmg/7.9.1399
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- Article
Genome-wide search for asthma susceptibility loci in a founder population.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1393, doi. 10.1093/hmg/7.9.1393
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Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis ( oc) mutation.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1407, doi. 10.1093/hmg/7.9.1407
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Association between uncoupling protein polymorphisms ( UCP2-UCP3) and energy metabolism/obesity in Pima Indians.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1431, doi. 10.1093/hmg/7.9.1431
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Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1363, doi. 10.1093/hmg/7.9.1363
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- Article
Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1425, doi. 10.1093/hmg/7.9.1425
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Linkage and association of adrenergic and dopamine receptor genes in the distal portion of the long arm of chromosome 5 with systolic blood pressure variation.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1379, doi. 10.1093/hmg/7.9.1379
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- Article
Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1347
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- Article
A gene recently inactivated in human defines a new olfactory receptor family in mammals.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1337, doi. 10.1093/hmg/7.9.1337
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Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1517, doi. 10.1093/hmg/7.9.1517
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Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1385, doi. 10.1093/hmg/7.9.1385
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- Article
Organization, expression and polymorphism of the human persyn gene.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1417, doi. 10.1093/hmg/7.9.1417
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- Article
Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1437, doi. 10.1093/hmg/7.9.1437
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- Article
Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1371, doi. 10.1093/hmg/7.9.1371
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Array-based multiplex analysis of candidate genes reveals two independent and additive genetic risk factors for myocardial infarction in the Finnish population.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1453, doi. 10.1093/hmg/7.9.1453
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- Article
Mutations in the Δ[sup 1]-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1411, doi. 10.1093/hmg/7.9.1411
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- Article
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1475, doi. 10.1093/hmg/7.9.1475
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- Article
A cellular model that recapitulates major pathogenic steps of Huntington's disease.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1355, doi. 10.1093/hmg/7.9.1355
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Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a Bicoid-like specificity and is expressed in the developing mouse brain.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1497, doi. 10.1093/hmg/7.9.1497
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Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1491, doi. 10.1093/hmg/7.9.1491
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Huntingtin interacts with a family of WW domain proteins.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1463, doi. 10.1093/hmg/7.9.1463
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5-HT[sub 2A] and 5-HT[sub 2C] receptor polymorphisms and psychopathology in late onset Alzheimer's disease.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1507, doi. 10.1093/hmg/7.9.1507
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Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1511, doi. 10.1093/hmg/7.9.1511
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- Article
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1449, doi. 10.1093/hmg/7.9.1449
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Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1485, doi. 10.1093/hmg/7.9.1485
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- Article