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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/oup/periodical/hmg/1996/volume_5
has manifestation of work	http://hub.abes.fr/oup/periodical/hmg/1996/volume_5/issue_11/m/web http://hub.abes.fr/oup/periodical/hmg/1996/volume_5/issue_11/m/print
Date Copyrighted	1996
Rights	© 1996 Oxford University Press
issue	11
is Is Part Of of	A Gene Transcribed from the Bidirectional ATM Promoter Coding for a Serine Rich Protein: Amino Acid Sequence, Structure and Expression Studies Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2 Alternate Promoters and Alternate Splicing of Human Tenascin-X, a Gene with 5′ and 3′ Ends Buried in Other Genes A Repeated Element in the Regulatory Region of the MNK Gene and Its Deletion in A Patient With Occipital Horn Syndrome Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy Network Analysis of Human Y Microsatellite Haplotypes A 94 kb Genomic Sequence 3′ to the Murine Xist Gene Reveals an AT Rich Region Containing a New Testis Specific Gene Tsx A Novel Heteroplasmic tRNAleu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 Which Escapes X-inactivation and Has Related Sequences on Yq11.2 Immunology of Gene Therapy with Adenoviral Vectors in Mouse Skeletal Muscle Mutation Rate Heterogeneity and the Generation of Allele Diversity at the Human Minisatellite MS205 (D16S309) A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I) Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males Oligonucleotide Probes for Alpha Satellite DNA Variants Can Distinguish Homologous Chromosomes by FISH Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene A Novel Human Homologue of Yeast Nucleosome Assembly Protein, 65 kb Centromeric to the p57KIP2 Gene, is Biallelically Expressed in Fetal and Adult Tissues Mutation of the Pancreatic Islet Inward Rectifier Kir6.2 Also Leads to Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

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