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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/1995/volume_4
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/1995/volume_4/issue_5/m/print http://hub.abes.fr/oup/periodical/hmg/1995/volume_4/issue_5/m/web
Date Copyrighted	1995
Rights	© 1995 Oxford University Press
issue	5
is Is Part Of of	High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes A novel dystrophin isoform is required for normal retinal electrophysiology The human Y chromosome homologue of XG: transcription of a naturally truncated gene Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5′ part of the gene The distribution of linkage disequilibrium over anonymous genome regions Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture Nucleotide sequence analysis of the apolipoprotein B 3′ VNTR A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q CORRIGENDUM Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency Mitochondrial DNA diversity in the Kuna Amerinds of Panamá A homozygous nonsense mutation in the α3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa CORRIGENDUM Human cell mutants with very low mitochondrial DNA copy number (ρd) Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) ERRATUM Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus Author index A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region Sex-specific meiotic recombination in the Prader—Willi/Angelman syndrome imprinted region Characterization of FMR1 proteins isolated from different tissues Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

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