Volume 17; Issue 6

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Human Mutation
Volume 17; Issue 6

Human Mutation

Volume 17; Issue 6

1

Denaturing high-performance liquid chromatography: A review

Wenzhong Xiao, Peter J. Oefner

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 832 KB

english, 2001

2

Automation in genotyping of single nucleotide polymorphisms

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 404 KB

english, 2001

3

Transthyretin mutations in hyperthyroxinemia and amyloid diseases

Maria João Mascarenhas Saraiva

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 263 KB

english, 2001

4

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

Eva Paloma, Amalia Martínez-Mir, Lluïsa Vilageliu, Roser Gonzàlez-Duarte, Susana Balcells

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 237 KB

english, 2001

5

Frequency of recent retrotransposition events in the human factor IX gene

Xuemin Li, William A. Scaringe, Kathleen A. Hill, Stacy Roberts, April Mengos, Diane Careri, Miguel Tezanos Pinto, Carol K. Kasper, Steve S. Sommer

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 335 KB

english, 2001

6

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

María Martinez-Gimeno, Miquel Maseras, Montserrat Baiget, Magdalena Beneito, Gillermo Antiñolo, Carmen Ayuso, Miguel Carballo

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 61 KB

english, 2001

7

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

Ana Vega, Berta Campos, Brigitte Bressac-de-Paillerets, Patricia M. Bond, Nicolas Janin, Fiona S. Douglas, Montserrat Domènech, Manel Baena, Carles Pericay, Carmen Alonso, Angel Carracedo, Montserrat

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 266 KB

english, 2001

8

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

Oana Caluseriu, Emanuela Lucci Cordisco, Alessandra Viel, Silvia Majore, Riccardo Nascimben, Salvatore Pucciarelli, Maurizio Genuardi

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 99 KB

english, 2001

9

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

Heinz Gabriel, Petra Kupsch, Jürgen Sudendey, Elke Winterhager, Klaus Jahnke, Jürgen Lautermann

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 68 KB

english, 2001

10

Novel mutations in the emerin gene in Israeli families

Yoram Nevo, Sarit Ahituv, Yuval Yaron, Merav Kedmi, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 34 KB

english, 2001

11

Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype

B. Suárez-Merino, J. Bye, J. McDowall, M. Ross, I.W. Craig

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 155 KB

english, 2001

12

Molecular analysis of phenylketonuria (PKU) in newborns from Texas

Y. Yang, M. Drummond-Borg, J. Garcia-Heras

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 25 KB

english, 2001

13

Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66

S.J.W. Delbrück, K.U. Kidd, M.R. Hoehe

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 17 KB

english, 2001

14

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

Bernard Hoffmann, Hajo Schmidt-Traub, Andreas Perrot, Karl Josef Osterziel, Reinhard Geßner

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 15 KB

english, 2001