Volume 13; Issue 4

Main
Human Mutation
Volume 13; Issue 4

Human Mutation

Volume 13; Issue 4

1

Mitochondrial deafness mutations reviewed

Nathan Fischel-Ghodsian

Journal:

Year:

1999

Language:

english

File:

PDF, 288 KB

english, 1999

2

WRN mutations in Werner syndrome

Michael J. Moser, Junko Oshima, Raymond J. Monnat Jr.

Journal:

Year:

1999

Language:

english

File:

PDF, 272 KB

english, 1999

3

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

Mauno Vihinen, Sau-Ping Kwan, Tracy Lester, Hans D. Ochs, Igor Resnick, Jouni Väliaho, Mary Ellen Conley, C.I. Edvard Smith

Journal:

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

4

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau, Beat Thöny

Journal:

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

5

Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection

Patricia Legoix, Marie-Fernande Legrand, Elisabeth Ollagnon, Gilbert Lenoir, Gilles Thomas, Jessica Zucman-Rossi

Journal:

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

6

Low yield of polymorphisms from EST blast searching: Analysis of genes related to oxidative stress and verification of the P197L polymorphism in GPX1

Lena Forsberg, Ulf de Faire, Ralf Morgenstern

Journal:

Year:

1999

Language:

english

File:

PDF, 312 KB

english, 1999

7

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

R.J.E. Jongbloed, A.A.M. Wilde, J.L.M.C. Geelen, P. Doevendans, C. Schaap, I. Van Langen, J.P. van Tintelen, J.M. Cobben, G.C.M. Beaufort-Krol, J.P.M. Geraedts, H.J.M. Smeets

Journal:

Year:

1999

Language:

english

File:

PDF, 329 KB

english, 1999

8

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

John F. Bateman, Susanna Freddi, Shireen R. Lamandé, Peter Byers, Steven Nasioulas, Jenny Douglas, Robyn Otway, Maija Kohonen-Corish, Edward Edkins, Susan Forrest

Journal:

Year:

1999

Language:

english

File:

PDF, 279 KB

english, 1999

9

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

Lars Allan Larsen, Michael Christiansen, Jens Vuust, Paal Skytt Andersen

Journal:

Year:

1999

Language:

english

File:

PDF, 674 KB

english, 1999

10

Heteroduplexes may confuse the interpretation of PCR-based molecular tests for the Friedreich ataxia GAA triplet repeat

Josée Poirier, Keiichi Ohshima, Massimo Pandolfo

Journal:

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

11

Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function?

Masahide Takahashi, Toshihide Iwashita, Massimo Santoro, Stanislas Lyonnet, Gilbert M. Lenoir, Marc Billaud

Journal:

Year:

1999

Language:

english

File:

PDF, 269 KB

english, 1999

12

A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);

Hartmut Peters, D. Hess, R. Fahsold, M. Schülke

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

13

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs

Israela Lerer, Ayala Laufer-Cahana, Jacob R. Rivlin, Arie Augarten, Dvorah Abeliovich

Journal:

Year:

1999

Language:

english

File:

PDF, 80 KB

english, 1999

14

Metachromatic leucodystrophy in Portugal–finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;

Ana Marcão, Olga Amaral, Eugénia Pinto, Rui Pinto, M.C. Sá Miranda

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

15

Identification of 6 new mutations in the iduronate sulfatase gene

Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

16

Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis

Yukihiko Mashima, Kei Shinoda, Susumu Ishida, Yoko Ozawa, Jun Kudoh, Takeshi Iwata, Yoshihisa Oguchi, Nobuyoshi Shimizu

Journal:

Year:

1999

Language:

english

File:

PDF, 21 KB

english, 1999

17

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y

Volkan Seyrantepe, Meral Ozguc, Turgay Coskun, Imran Ozalp, Juergen KV Reichardt

Journal:

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

18

Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E

Charalampos Karadimas, Marios Panas, Penelope Chronopoulou, Dimitrios Avramopoulos, Demetrios Vassilopoulos

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

19

Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin α2-chain coding region detected by RNA/SSCP analysis

Shirly G. Panicker, Joshua T. Mendell, Lei Chen, Bo Feng, Zarife Sahenk, George A. Marzluf, Anthony A. Amato, Jerry R. Mendell

Journal:

Year:

1999

Language:

english

File:

PDF, 17 KB

english, 1999

20

A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer

Gianfranco Voglino, Cinzia Pera, Gianbattista Ferrara, Lorenzo Silengo, Guglielmo Stefanuto, Antonella Marongiu, Luciano Fessia

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

21

A novel −27A>G point mutation in the beta globin gene

Silvia Fattore, Maurizio Travi, Paola Primignani, Anita Biasi, Federica Sbrocca, Nadia Mirra, Roberta Ghilardi, Angelo Cantù Rajnoldi

Journal:

Year:

1999

Language:

english

File:

PDF, 13 KB

english, 1999

22

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia

Shigeo Kure, Dian-Chang Hou, Michinori Sato, Yoichi Matsubara, Kuniaki Narisawa

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски