Volume 15; Issue 6

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Human Mutation
Volume 15; Issue 6

Human Mutation

Volume 15; Issue 6

1

Twenty two novel mutations of the factor VII gene in factor VII deficiency

Karin Wulff, Falko H. Herrmann

Journal:

Year:

2000

Language:

english

File:

PDF, 222 KB

english, 2000

2

Analysis of CDKN1C in Beckwith Wiedemann Syndrome

Elizabeth Algar, Samantha Brickell, Gillian Deeble, David Amor, Peter Smith

Journal:

Year:

2000

Language:

english

File:

PDF, 359 KB

english, 2000

3

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients

Daniel S. Warren, Brian D. Wolfe, Stephen J. Gould

Journal:

Year:

2000

Language:

english

File:

PDF, 453 KB

english, 2000

4

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

M.E. Rubio-Gozalbo, K.P. Dijkman, L.P. van den Heuvel, R.C.A. Sengers, U. Wendel, J.A.M. Smeitink

Journal:

Year:

2000

Language:

english

File:

PDF, 255 KB

english, 2000

5

A novel Sta glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene

Cheng-Han Huang, Ying Chen, Olga O. Blumenfeld

Journal:

Year:

2000

Language:

english

File:

PDF, 464 KB

english, 2000

6

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Ludwine M. Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman, Anne De Paepe

Journal:

Year:

2000

Language:

english

File:

PDF, 493 KB

english, 2000

7

A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning

L.A. Ellis, C.F. Taylor, G.R. Taylor

Journal:

Year:

2000

Language:

english

File:

PDF, 248 KB

english, 2000

8

Higher resolution microplate array diagonal gel electrophoresis: Application to a multiallelic minisatellite

Sandra D. O'Dell, Xiao-he Chen, Ian N.M. Day

Journal:

Year:

2000

Language:

english

File:

PDF, 450 KB

english, 2000

9

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children

A. Tessa, A. Simonati, A. Tavoni, E. Bertini, F.M. Santorelli

Journal:

Year:

2000

Language:

english

File:

PDF, 81 KB

english, 2000

10

Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population

Dorota Butkiewicz, Marek Rusin, Curtis C. Harris, Mieczyslaw Chorazy

Journal:

Year:

2000

Language:

english

File:

PDF, 22 KB

english, 2000

11

Identification of 5 novel mutations in the AGXT gene

Odile Basmaison, Marie-Odile Rolland, Pierre Cochat, Dominique Bozon

Journal:

Year:

2000

Language:

english

File:

PDF, 20 KB

english, 2000

12

Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: Lack of FANCA protein

Gunay Balta, Johan P. de Winter, Hulya Kayserili, Jan C. Pronk, Jan C. Pronk, Hans Joenje

Journal:

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

13

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients

Paula Martin, Niina Heiskari, Heli Pajari, Carola Grönhagen-Riska, Helena Kääriäinen, Olli Koskimies, Karl Tryggvason

Journal:

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

14

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency

Miguel A. Martín, Juan C. Rubio, Pilar del Hoyo, Alberto García, Fernando Bustos, Yolanda Campos, Ana Cabello, José M. Culebras, Joaquín Arenas

Journal:

Year:

2000

Language:

english

File:

PDF, 102 KB

english, 2000

15

Novel frameshift mutations in the RP2 gene and polymorphic variants

Dawn L. Thiselton, Ilaria Zito, Catherine Plant, Marcelle Jay, Shirley V. Hodgson, Alan C. Bird, Shomi S. Bhattacharya, Alison J. Hardcastle

Journal:

Year:

2000

Language:

english

File:

PDF, 18 KB

english, 2000

16

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects

Päivi Laitinen, Heidi Fodstad, Kirsi Piippo, Heikki Swan, Lauri Toivonen, Matti Viitasalo, Jaakko Kaprio, Kimmo Kontula

Journal:

Year:

2000

Language:

english

File:

PDF, 24 KB

english, 2000

17

Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene

Kaori Shishikura, Hirohiko Hohjoh, Katsushi Tokunaga&lt, P

Journal:

Year:

2000

Language:

english

File:

PDF, 30 KB

english, 2000

18

Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients

Patrick S. Moore, Davide Antonello, Guido Martignoni, Chiara Racchini, Maurizio Ventrucci, Aldo Scarpa

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

19

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

Nicola J. Murton, Ishtiaq Rehman, Graeme C.M. Black, Chris F. Inglehearn, Amanda J. Churchill

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

20

Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)

R. Perrichot, B. Mercier, A. Carre, J. Cledes, C. Ferec

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

21

Human beta defensin 1 gene: Six new variants

Serena Vatta, Michele Boniotto, Elena Bevilacqua, Anna Belgrano, Doroti Pirulli, Sergio Crovella, Antonio Amoroso

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

22

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma

Javier Alonso, Purificación García-Miguel, José Abelairas, Angel Pestaña

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

23

Identification of a polymorphism (D366H) in the endoglin gene in Chinese

Wei-De Lin, Fuu-Jen Tsai, Cheng-Chun Lee, Jer-Yuarn Wu

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

24

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa

Corinne Bareil, Valérie Delague, Bernard Arnaud, Jacques Demaille, Christian Hamel, Mireille Claustres

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

25

Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy

Ryuichiro Anan, Hirohisa Shono, Chuwa Tei

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

26

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa

Li Liu, Lei Jin, Mugen Liu, Yong Wei, Xuejun Wu, Ye Liu, Youe Liu, Honghai Wang, Renyuan Chu, Jianhua Chai

Journal:

Year:

2000

Language:

english

File:

PDF, 13 KB

english, 2000

27

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome

Sabine Jahr, Thorsten Lewalter, Rolf-Dieter Hesch, Berndt Lüderitz, Sabine Englisch

Journal:

Year:

2000

Language:

english

File:

PDF, 10 KB

english, 2000

28

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome

Abdelhamid Barakat, Mouna Ababou, Rosine Onclercq, Stéphanie Dutertre, ElBekkay Chadli, Nezha Hda, Abdellah Benslimane, Mounira Amor-Guéret

Journal:

Year:

2000

Language:

english

File:

PDF, 12 KB

english, 2000

29

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia

Kyeong-Man Hong, Si-Houn Hahn, Moon-Kee Paik

Journal:

Year:

2000

Language:

english

File:

PDF, 9 KB

english, 2000

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