Volume 103; Issue 6

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Human Genetics
Volume 103; Issue 6

Human Genetics

Volume 103; Issue 6

1

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in anAlu-element in intron 8 of the human β-glucuronidase gene

R. Vervoort, Richard Gitzelmann, W. Lissens, Inge Liebaers

Journal:

Year:

1998

Language:

english

File:

PDF, 205 KB

english, 1998

2

Mutations in the gene for the common gamma chain (γc) in X-linked severe combined immunodeficiency

Sebastian D. Fugmann, Susanna Müller, Wilhelm Friedrich, Claus R. Bartram, K. Schwarz

Journal:

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

3

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

S. Ikegawa, Hirofumi Ohashi, Gen Nishimura, Kyoung Chang Kim, Akio Sannohe, Mamori Kimizuka, Yoshimitsu Fukushima, Toshiro Nagai, Yusuke Nakamura

Journal:

Year:

1998

Language:

english

File:

PDF, 187 KB

english, 1998

4

Genomic structure and mutational spectrum of the bicistronicMOCS1gene defective in molybdenum cofactor deficiency type A

J. Reiss, Ernst Christensen, Gerhard Kurlemann, Marie-Therese Zabot, Claude Dorche

Journal:

Year:

1998

Language:

english

File:

PDF, 75 KB

english, 1998

5

The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes (CHRNB2andCHRNA3)

Nicole Rempel, Sibilla Heyers, Hartmut Engels, E. Sleegers, O. K. Steinlein

Journal:

Year:

1998

Language:

english

File:

PDF, 257 KB

english, 1998

6

FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy

M. Hixon, Elise Millie, L. A. Judis, Stephanie Sherman, Katherine Allran, Lisa Taft, Terry Hassold

Journal:

Year:

1998

Language:

english

File:

PDF, 40 KB

english, 1998

7

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family

Françoise Macari, Corinne Lautier, Anne Girardet, Frédéric Dadoun, Patrice Darmon, Anne Dutour, Eric Renard, Patrice Bouvagnet, Mireille Claustres, Charles Oliver, F. Grigorescu

Journal:

Year:

1998

Language:

english

File:

PDF, 92 KB

english, 1998

8

Genomic structure of the human ezrin gene

P. Majander-Nordenswan, Markku Sainio, Ossi Turunen, Juha Jääskeläinen, Olli Carpén, Juha Kere, Antti Vaheri

Journal:

Year:

1998

Language:

english

File:

PDF, 202 KB

english, 1998

9

CCG repeats in cDNAs from human brain

John J. Kleiderlein, Paul E. Nisson, Joel Jessee, W.-B. Li, K. G. Becker, Michael L. Derby, Christopher A. Ross, R. L. Margolis

Journal:

Year:

1998

Language:

english

File:

PDF, 65 KB

english, 1998

10

A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1

Shigui Zhu, D. S. Gerhard

Journal:

Year:

1998

Language:

english

File:

PDF, 78 KB

english, 1998

11

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)

Cong-Yi Wang, Abdoreza Davoodi-Semiromi, W. Huang, Ellen Connor, Jing-Da Shi, J.-X. She

Journal:

Year:

1998

Language:

english

File:

PDF, 47 KB

english, 1998

12

Relaxation of imprinting in Prader-Willi syndrome

P. K. Rogan, James R. Seip, Lisa M. White, S. L. Wenger, Mark W. Steele, Mark A. Sperling, Ram Menon, Joan H. M. Knoll

Journal:

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

13

Chromosomal fragile site expression in lymphocytes from patients with schizophrenia

Chia-Hsiang Chen, Hsuan-Hui Shih, Sheng Wang-Wuu, John Jen Tai, K.-D. Wuu

Journal:

Year:

1998

Language:

english

File:

PDF, 61 KB

english, 1998

14

Identification of the 185delAGBRCA1mutation in a Spanish Gypsy population

O. Díez, Montserrat Domènech, María Carmen Alonso, Joan Brunet, Judit Sanz, Joan Cortés, Elisabeth del Río, Montserrat Baiget

Journal:

Year:

1998

Language:

english

File:

PDF, 19 KB

english, 1998

15

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region ofPKD1

Michael Koptides, Rolandos Constantinides, George Kyriakides, Michael Hadjigavriel, Philippos C. Patsalis, Alkis Pierides, C. Constantinou Deltas

Journal:

Year:

1998

Language:

english

File:

PDF, 189 KB

english, 1998

16

Complete mutational screening of theCFTRgene in 120 patients with pulmonary disease

C. Bombieri, Mariagiovanna Benetazzo, Arianna Saccomani, Francesca Belpinati, Lucia Sonia Gilè, Maurizio Luisetti, Pier Franco Pignatti

Journal:

Year:

1998

Language:

english

File:

PDF, 36 KB

english, 1998

17

Frequency of nucleated red blood cells in maternal blood during the different gestational ages

L. P. Shulman, Owen P. Phillips, Elizabeth Tolley, David Sammons, S. S. Wachtel

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

18

Detection of 6q deletions in breast carcinoma cell lines by fluorescence in situ hybridization

Yanming Zhang, Peter Matthiesen, Reiner Siebert, Svetlana Harder, Michael Theile, Siegfried Scherneck, B. Schlegelberger

Journal:

Year:

1998

Language:

english

File:

PDF, 227 KB

english, 1998

19

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients

S. Karsten, Elena Voskoboeva, Svetlana Tishkanina, U. Pettersson, Xcenia Krasnopolskaja, Marie-Louise Bondeson

Journal:

Year:

1998

Language:

english

File:

PDF, 55 KB

english, 1998

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