Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 11
Results: 20
Mutation -59c->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2025, doi. 10.1093/hmg/8.11.2025
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- Article
A novel deficiency of mitochondrial ATPase of nuclear origin.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1967
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- Article
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2047, doi. 10.1093/hmg/8.11.2047
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- Article
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cbIE complementation group of disorders in folate/cobalamin metabolism.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2009, doi. 10.1093/hmg/8.11.2009
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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1Beta.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2001, doi. 10.1093/hmg/8.11.2001
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- Article
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2063, doi. 10.1093/hmg/8.11.2063
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- Article
A common polymorphic allele of the human luteinizing hormone Beta-subunit gene: additional mutations and differential function of the promoter sequence.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2037, doi. 10.1093/hmg/8.11.2037
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- Article
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoakeletal structures at lateral and apical surfaces of cells.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2079, doi. 10.1093/hmg/8.11.2079
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- Article
Splicing modulation of integrin Beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2097, doi. 10.1093/hmg/8.11.2097
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Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2031, doi. 10.1093/hmg/8.11.2031
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Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2055, doi. 10.1093/hmg/8.11.2055
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Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1975, doi. 10.1093/hmg/8.11.1975
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Molecular basis of congenital Lp(a) deficiency: a frequent apo(a) 'null' mutation in Caucasians.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2087, doi. 10.1093/hmg/8.11.2087
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- Article
Instability of the EPM1 minisatellite.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1985, doi. 10.1093/hmg/8.11.1985
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Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2117, doi. 10.1093/hmg/8.11.2117
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The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2107, doi. 10.1093/hmg/8.11.2107
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Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2071, doi. 10.1093/hmg/8.11.2071
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Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1989, doi. 10.1093/hmg/8.11.1989
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The Old World monkey DAZ(Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2017, doi. 10.1093/hmg/8.11.2017
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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2121, doi. 10.1093/hmg/8.11.2121
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- Article