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  European Journal of Human Genetics: Vol. 4, No. 6, 1996 (November-December)  
  November 01, 1996

virtual library in human genetics and molecular biology

 
     
G. J. B. van Ommen, Leiden


S.Karger AG, Basel
  Date of publishing: November, 1996  
 


Scientific Correspondence

305 Adolescents’ Attitude Towards Carrier Testing for Cystic Fibrosis
Mélançon, M.J.; De Braekeleer, M. (Chicoutimi/Québec)

307 Positional Cloning, Transcription Mapping, and Whole Genome Gene Identification: The Choice Is Yours!
Ballabio, A. (Milan/Siena)

Original Papers

308 Human Trefoil Peptides: Genomic Structure in 21q22.3 and Coordinated Expression
Gött, P.; Beck, S.; Machado, J.C.; Carneiro, F.; Schmitt, H.; Blin, N. (Tübingen/Porto)

316 A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without Alpha-Thalassemia
Villard, L.; Lacombe, D.; Fontés, M. (Marseille/Bordeaux)

321 A 3-Mb Region for the Familial Hemiplegic Migraine Locus on 19p13.1-p13.2: Exclusion of PRKCSH as a Candidate Gene
Ophoff, R.A.; Terwindt, G.M.; Vergouwe, M.N.; van Eijk, R.; Mohrenweiser, H.; Litt, M.; Hofker, M.H.; Haan, J.; Ferrari, M.D.; Frants, R.R. (Leiden/Livermore, Calif./Portland, Oreg.)

329 Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies
Nelis, E.; Warner, L.E.; De Vriendt, E.; Chance, P.F.; Lupski, J.R.; Van Broeckhoven, C. (Antwerp/Houston, Tex./Philadelphia, Pa.)

334 Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations
Tylki-Szymanska, A.; Millat, G.; Maire, I.; Czartoryska, B. (Warsaw/Lyon)

338 Cystic Fibrosis Heterozygote Screening in the Orthodox Community of Ashkenazi Jews: The Dor Yesharim Approach and Heterozygote Frequency
Abeliovich, D.; Quint, A.; Weinberg, N.; Verchezon, G.; Lerer, I.; Ekstein, J.; Rubinstein, E. (Jerusalem/New York, N.Y.)

342 Physical Map and Cosmid Contig Encompassing a New Interstitial Deletion of the X-Linked Lymphoproliferative Syndrome Region
Lamartine, J.; Nichols, K.E.; Yin, L.; Krainer, M.; Heitzmann, F.; Bernard, A.; Gaudi, S.; Lenoir, G.M.; Sullivan, J.L.; Ikeda, J.E.; Porta, G.; Schlessinger, D.; Romeo, G.; Haber, D.A.; Sylla, B.S.; Harkin, D.P. (Lyon/Charlestown, Mass./Worcester, Mass./Kanagawa/Milan/St. Louis, Mo.)

Short Reports

352 Exon-Scanning Mutation Analysis of the ATM Gene in Patients with Ataxia-Telangiectasia
Vorechovsky, I.; Luo, L.; Prudente, S.; Chessa, L.; Russo, G.; Kanariou, M.; James, M.; Negrini, M.; Webster, A.D.B.; Hammarström, L. (Huddinge/London/Rome/Pomezia/Athens/Oxford/Philadelphia, Pa.)

356 Prevalence and Parental Origin of de novo RET Mutations in Hirschsprung’s Disease
Yin, L.; Seri, M.; Barone, V.; Tocco, T.; Scaranari, M.; Romeo, G. (Genoa)

359 Announcements

360 Author Index Vol. 4, 1996

363 Subject Index Vol. 4, 1996

S. KARGER AG, BASEL

Medical and Scientific Publishers

 
     
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