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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_4/m/web http://hub.abes.fr/oup/periodical/hmg/1994/volume_3/issue_4/m/print
Date Copyrighted	1994
Rights	© Oxford University Press
issue	4
is Is Part Of of	Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome A novel splice donor mutation affecting position + 3 in intron 6 of the factor VIII gene A microsatellite, D8S602, adjacent to the MSR gene D10S681, a microsatellite polymorphism near the RET locus BamHI RFLP for the GHRHR locus Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region D20S213, a microsatellite polymorphism near the D20S16 locus Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency CA repeat polymorphism at the TCF8 locus CFTR haplotype backgrounds on normal and mutant CFTR genes Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease An intragenic Taql RFLP at the PAX5 locus Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests Tetranucleotide repeat polymorphism at the D8S322 locus The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others A PCR method for detecting polymorphism in the TGFA gene A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1) A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1 Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE) CORRIGENDA High resolution ordering of YAC contigs using extended chromatin and chromosomes Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts Dinucleotide repeat polymorphism at the DXS1683 locus Author index ADDITIONAL INFORMATION Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity Isolation of human simple repeat loci by hybridization selection Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent Taql polymorphism in intron 2 of the GCDH gene A gene from the Xp22.3 region shares homology with voltage-gated chloride channels Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3 Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family Dinucleotide repeat polymorphism in the IL2 and IL5RA genes ERRATA A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21 Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

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