Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia S. IkegawaHirofumi OhashiYusuke Nakamura Original investigation Pages: 633 - 638
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A J. ReissErnst ChristensenClaude Dorche Original investigation Pages: 639 - 644
The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes (CHRNB2 and CHRNA3) Nicole RempelSibilla HeyersO. K. Steinlein Original investigation Pages: 645 - 653
FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy M. HixonElise MillieTerry Hassold Original investigation Pages: 654 - 657
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family Françoise MacariCorinne LautierF. Grigorescu Original investigation Pages: 658 - 661
Genomic structure of the human ezrin gene P. Majander-NordenswanMarkku SainioAntti Vaheri Original Investigation Pages: 662 - 665
CCG repeats in cDNAs from human brain John J. KleiderleinPaul E. NissonR. L. Margolis Original investigation Pages: 666 - 673
A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1 Shigui ZhuD. S. Gerhard Original investigation Pages: 674 - 680
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1) Cong-Yi WangAbdoreza Davoodi-SemiromiJ.-X. She Original investigation Pages: 681 - 685
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene R. VervoortRichard GitzelmannInge Liebaers Original investigation Pages: 686 - 693
Relaxation of imprinting in Prader-Willi syndrome P. K. RoganJames R. SeipJoan H. M. Knoll Original investigation Pages: 694 - 701
Chromosomal fragile site expression in lymphocytes from patients with schizophrenia Chia-Hsiang ChenHsuan-Hui ShihK.-D. Wuu Original investigation Pages: 702 - 706
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population O. DíezMontserrat DomènechMontserrat Baiget Original investigation Pages: 707 - 708
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1 Michael KoptidesRolandos ConstantinidesC. Constantinou Deltas Original investigation Pages: 709 - 717
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease C. BombieriMariagiovanna BenetazzoPier Franco Pignatti Original investigation Pages: 718 - 722
Frequency of nucleated red blood cells in maternal blood during the different gestational ages L. P. ShulmanOwen P. PhillipsS. S. Wachtel Original investigation Pages: 723 - 726
Detection of 6q deletions in breast carcinoma cell lines by fluorescence in situ hybridization Yanming ZhangPeter MatthiesenB. Schlegelberger Short report Pages: 727 - 729
Mutations in the gene for the common gamma chain (γc) in X-linked severe combined immunodeficiency Sebastian D. FugmannSusanna MüllerK. Schwarz Short report Pages: 730 - 731
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients S. KarstenElena VoskoboevaMarie-Louise Bondeson Short report Pages: 732 - 735