Volume 93; Issue 5

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Human Genetics
Volume 93; Issue 5

Human Genetics

Volume 93; Issue 5

1

Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens

Jih-Tung Pai, Shih-Feng Tsai, Chen-Jee Horng, Pao-Chin Chiu, Ming-Yuan Cheng, Kwang-Jen Hsiao, Kuang-Dong Wuu

Journal:

Year:

1994

Language:

english

File:

PDF, 859 KB

english, 1994

2

Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis

Christina Brahe, Isabella Velonà, Gerrit Steege, Stefania Zappata, Anneke Y. Veen, Jan Osinga, Carli M. J. Tops, Riccardo Fodde, P. Meera Khan, Charles H. C. M. Buys, Giovanni Neri

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Year:

1994

Language:

english

File:

PDF, 2.08 MB

english, 1994

3

Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization

Norio Miharu, Robert G. Best, S. Robert Young

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Year:

1994

Language:

english

File:

PDF, 1.05 MB

english, 1994

4

Evidence against DNA polymerase β as a candidate gene for Werner syndrome

Ming Chang, Glenna C. Burmer, Joann Sweasy, Lawrence A. Loeb, Susanne Edelhoff, Christine M. Disteche, Chang-En Yu, Leojean Anderson, Junko Oshima, Jun Nakura, Tetsuro Miki, Kouzin Kamino, Toshio Ogih

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Year:

1994

Language:

english

File:

PDF, 1.74 MB

english, 1994

5

The CL100 gene, which encodes a dual specificity (Tyr/Thr) MAP kinase phosphatase, is highly conserved and maps to human chromosome 5q34

E. A. Emslie, T. A. Jones, D. Sheer, S. M. Keyse

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Year:

1994

Language:

english

File:

PDF, 882 KB

english, 1994

6

Immumoglobulin allotypes in Ecuadorian Cayapa Indians

Michael A. Kron, Laura Gately, Janardan P. Pandey, Miguel H. Jurado, Jose Rumbea Guzman

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Year:

1994

Language:

english

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PDF, 305 KB

english, 1994

7

Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E)

Victor Wiebe, Ahmed Helal, Marie-Paule Lefranc, Gérard Lefranc

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Year:

1994

Language:

english

File:

PDF, 1.47 MB

english, 1994

8

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

Kalina Boteva, Elena Papageorgiou, Christina Georgiou, Michael Angastiniotis, Lefkos T. Middleton, C. D. Constantinou-Deltas

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Year:

1994

Language:

english

File:

PDF, 829 KB

english, 1994

9

Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation

Makoto Daimon, Keiichi Yamatani, Masahiko Igarashi, Norio Fukase, Yoshihiro Morita, Atsushi Ogawa, Makoto Tominaga, Hideo Sasaki

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Year:

1994

Language:

english

File:

PDF, 1013 KB

english, 1994

10

A new missense mutation (Cys297→Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)

N. Lelli, R. Garuti, P. Pedrazzi, M. Ghisellini, M. L. Simone, R. Tiozzo, L. Cattin, M. Valenti, M. Rolleri, S. Bertolini, C. Stefanutti, S. Calandra

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Year:

1994

Language:

english

File:

PDF, 561 KB

english, 1994

11

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

David J. Bunyan, David O. Robinson, Amanda L. Collins, Annette E. Cockwell, Hilary M. S. Bullman, Paul A. Whittaker

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Year:

1994

Language:

english

File:

PDF, 516 KB

english, 1994

12

Ancestry of SINE-R.C2 a human-specific retroposon

Zeng-Bian Zhu, Bixi Jian, John E. Volanakis

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Year:

1994

Language:

english

File:

PDF, 1.07 MB

english, 1994

13

Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria

William E. Schreiber, Fenton Fong, Azim Jamani

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Year:

1994

Language:

english

File:

PDF, 789 KB

english, 1994

14

A region-specific microdissection library for human chromosome 2p23–p25 and the analysis of an interstitial deletion of 2p23.3–p25.1

Jingwei Yu, Jianxin Qi, Suhong Tong, Fa-Ten Kao

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Year:

1994

Language:

english

File:

PDF, 800 KB

english, 1994

15

Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter

Frédérique Tihy, Nicolas Vogt, Dominique Recan, Bernard Malfoy, France Leturcq, Michelle Coquet, Françoise Serville, Daniel Fontan, Jean-Michel Guillard, Jean-Claude Kaplan, Bernard Dutrillaux, Nicole

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Year:

1994

Language:

english

File:

PDF, 1.06 MB

english, 1994

16

A splicing mutation in the cytochrome b5gene from a patient with congenital methemoglobinemia and pseudohermaphrodism

Sara J. Giordano, Avinoam Kaftory, Alan W. Steggles

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Year:

1994

Language:

english

File:

PDF, 522 KB

english, 1994

17

TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation of the alpha-1-antitrypsin gene

Anke Hinney, Christine Dürr, Christine Luckenbach, Horst Ritter

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Year:

1994

Language:

english

File:

PDF, 492 KB

english, 1994

18

The human vigilin gene: identification, chromosomal localization and expression pattern

Gabriele Plenz, Sebastian Kügler, Susanne Schnittger, Harald Rieder, Christa Fonatsch, Peter K. Müller

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Year:

1994

Language:

english

File:

PDF, 771 KB

english, 1994

19

Fanconi anemia cells have a normal gene structure for topoisomerase I

Hiroshi Saito, Markus Grompe, Tina L. Neeley, Petra M. Jakobs, Robb E. Moses

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Year:

1994

Language:

english

File:

PDF, 846 KB

english, 1994

20

Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint

Michèle Chery, Valérie Biancalana, Christophe Philippe, Georges Malpuech, Hélène Carla, Simone Gilgenkrantz, Jean-Louis Mandel, André Hanauer

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Year:

1994

Language:

english

File:

PDF, 656 KB

english, 1994

21

Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations

Maria Gomolka, Joachim Hundrieser, Peter Nürnberg, Lutz Roewer, Jörg T. Epplen, Cornelia Epplen

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Year:

1994

Language:

english

File:

PDF, 444 KB

english, 1994

22

A Gln-281 to Arg substitution in α-l-fucosidase is responsible for a common polymorphism detected by isoelectric focusing

Meiheng Yang, Richard A. DiCioccio

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Year:

1994

Language:

english

File:

PDF, 335 KB

english, 1994

23

Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier

Ethylin Wang Jabs, Philip J. Thomas, Michael Bernstein, Cathleen Coss, Gloria C. Ferreira, Peter L. Pedersen

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Year:

1994

Language:

english

File:

PDF, 424 KB

english, 1994

24

A chimaeric animal model for confined placental mosaicism

Roberta M. James, John D. West

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Year:

1994

Language:

english

File:

PDF, 199 KB

english, 1994

25

A Japanese patient with the Costello syndrome

Nobuhiko Okamoto, Hide-aki Chiyo, Katsumi Imai, Kazumasa Otani, Yasuyuki Futagi

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Year:

1994

Language:

english

File:

PDF, 627 KB

english, 1994

26

Identification of a polymorphism in intron 2 of the p53 gene

Lisa M. Pleasants, Marc F. Hansen

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Year:

1994

Language:

english

File:

PDF, 238 KB

english, 1994

27

Identification of three RFLPs at the HCK locus on chromosome 20

Peter E. Hollings, Mary J. Morrison, Elisabeth Wells, Peter E. Crossen

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Year:

1994

Language:

english

File:

PDF, 290 KB

english, 1994

28

A transcribed polymorphism and sub-localisation of MDM2

Jim Heighway, Erika L. D. Mitchell, David Jones, Gavin R. M. White, Mauro F. Santibáñez Koref

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Year:

1994

Language:

english

File:

PDF, 294 KB

english, 1994

29

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

Toshinobu Matsuura, Ryuuji Hoshide, Chiaki Setoyama, Kazunori Shimada, Yutaka Hase, Toshihiko Yanagawa, Mitsuharu Kajita, Ichiro Matsuda

Journal:

Year:

1994

Language:

english

File:

PDF, 39 KB

english, 1994

30

Spectrin αIIa variant in dominant and non-dominant spherocytosis

P. Boivin, C. Galand, I. Devaux, M. C. Lecomte, M. Garbarz, D. Dhermy

Journal:

Year:

1994

File:

PDF, 19 KB

1994

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