About: http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_10/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_10/w Goto Sponge NotDistinct Permalink

Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/1994/volume_3
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_10/m/print http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_10/m/web
Date Copyrighted	1994
Rights	© Oxford University Press
issue	10
is Is Part Of of	Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion A Bg/II polymorphism in the COL4A6 gene Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient Haplotype analysis of MEN 2 mutations The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13 A heat shock gene at 14q22: mapping and expression Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17 Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia Novel small mutations along the DMD/BMD gene associated with different phenotypes Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa Dinucleotide repeat polymorphism at the NF2 gene GA repeat polymorphism at the PRM2 male fertility locus A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region The phospholipase C β3 gene located in the MEN1 region shows loss of expression in endocrine tumours Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria Polymorphism of the HLA-90 new class I gene Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia The same polymorphism identified by the DXS571(B) and DXS1105 loci Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD) A transcript map of the Down syndrome critical region on chromosome 21 The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor Identification of two mutant alleles of transcobalamin II in an affected family MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21 Sequence organization of the human chromosome 2q telomere Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV Tetranucleotide repeat polymorphism at the D8S492 locus High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform Identification of a novel paternally expressed gene in the Prader - Willi syndrome region Identification of a new frameshift mutation (1801delAG) in the ALD gene Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35 Author index

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata