Erscheinungsjahr
Medientyp
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Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
NationallizenzNature Publishing Group | 1992| -
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid
NationallizenzNature Publishing Group | 1992| -
Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age
NationallizenzNature Publishing Group | 1992| -
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
NationallizenzNature Publishing Group | 1992| -
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene
NationallizenzNature Publishing Group | 1992| -
The human PAX6 gene is mutated in two patients with aniridia
NationallizenzNature Publishing Group | 1992| -
Adenovirus–mediated in vivo gene transfer and expression in normal rat liver
NationallizenzNature Publishing Group | 1992| -
Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain
NationallizenzNature Publishing Group | 1992| -
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
NationallizenzNature Publishing Group | 1992| -
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
NationallizenzNature Publishing Group | 1992| -
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
NationallizenzNature Publishing Group | 1992| -
Submucosal glands are the predominant site of CFTR expression in the human bronchus
NationallizenzNature Publishing Group | 1992| -
Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A
NationallizenzNature Publishing Group | 1992| -
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
NationallizenzNature Publishing Group | 1992| -
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
NationallizenzNature Publishing Group | 1992| -
Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland
NationallizenzNature Publishing Group | 1992| -
Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension
NationallizenzNature Publishing Group | 1992| -
The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
NationallizenzNature Publishing Group | 1992| -
Large scale cDNA sequencing for analysis of quantitative and qualitative aspects of gene expression
NationallizenzNature Publishing Group | 1992|
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