Volume 18; Issue 4

Main
Human Mutation
Volume 18; Issue 4

Human Mutation

Volume 18; Issue 4

1

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Luigi D. Notarangelo, Patrizia Mella, Alison Jones, Genevieve de Saint Basile, Gianfranco Savoldi, Treena Cranston, Mauno Vihinen, Richard Fabian Schumacher

Journal:

Year:

2001

Language:

english

File:

PDF, 407 KB

english, 2001

2

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Gouri Yogalingam, John J. Hopwood

Journal:

Year:

2001

Language:

english

File:

PDF, 544 KB

english, 2001

3

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase

Tom Litjens, John J. Hopwood

Journal:

Year:

2001

Language:

english

File:

PDF, 401 KB

english, 2001

4

Improved detection of CFTR mutations in Southern California Hispanic CF patients

Lee-Jun C. Wong, Jianjun Wang, Ying-Hua Zhang, Evelyn Hsu, Ruth A. Heim, C. Michael Bowman, Marlyn S. Woo

Journal:

Year:

2001

Language:

english

File:

PDF, 527 KB

english, 2001

5

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

Yasuhiro Indo, Sek Mardy, Yuichi Miura, Allie Moosa, Essam A.R. Ismail, Ennio Toscano, Generoso Andria, Vito Pavone, Deborah L. Brown, Alice Brooks, Fumio Endo, Ichiro Matsuda

Journal:

Year:

2001

Language:

english

File:

PDF, 477 KB

english, 2001

6

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

James M. Pace, Mary Atkinson, Marcia C. Willing, Gillian Wallis, Peter H. Byers

Journal:

Year:

2001

Language:

english

File:

PDF, 382 KB

english, 2001

7

Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes

Thomas Immervoll, Sabine Loesgen, Gabriele Dütsch, Henning Gohlke, Nicole Herbon, Sabine Klugbauer, Astrid Dempfle, Heike Bickeböller, Johannes Becker-Follmann, Franz Rüschendorf, Kathrin Saar, Andre

Journal:

Year:

2001

Language:

english

File:

PDF, 442 KB

english, 2001

8

Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)

J.P. Geisler, M.A. Hatterman-Zogg, J.A. Rathe, T.A. Lallas, P. Kirby, R.E. Buller

Journal:

Year:

2001

Language:

english

File:

PDF, 328 KB

english, 2001

9

Analysis of a non-functional HNF-1α (TCF1) mutation in Japanese subjects with familial type 1 diabetes

Issei Yoshiuchi, Kazuya Yamagata, Masaaki Yoshimoto, Qian Zhu, Qin Yang, Takao Nammo, Rikako Uenaka, Ei-ichi Kinoshita, Toshiaki Hanafusa, Jun-ichiro Miyagawa, Yuji Matsuzawa

Journal:

Year:

2001

Language:

english

File:

PDF, 380 KB

english, 2001

10

10th International HUGO Mutation Database Initiative Meeting, 19 April 2001, Edinburgh, Scotland

Saeed A. Teebi, A. Jamie Cuticchia, Richard G.H. Cotton

Journal:

Year:

2001

Language:

english

File:

PDF, 220 KB

english, 2001

11

Mutation analysis of the adenomatous polyposis coli (APC) gene in northwest Spanish patients with familial adenomatous polyposis (FAP) and sporadic colorectal cancer

Clara Ruiz-Ponte, Ana Vega, Angel Carracedo, Francisco Barros

Journal:

Year:

2001

Language:

english

File:

PDF, 26 KB

english, 2001

12

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain

Patrizia Mella, Richard Fabian Schumacher, Treena Cranston, Genevieve de Saint Basile, Gianfranco Savoldi, Luigi D. Notarangelo

Journal:

Year:

2001

Language:

english

File:

PDF, 105 KB

english, 2001

13

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia

Yue Wang, Hirokazu Kanegane, Ozden Sanal, Fügen Ersoy, Ilhan Tezcan, Takeshi Futatani, Satoshi Tsukada, Toshio Miyawaki

Journal:

Year:

2001

Language:

english

File:

PDF, 25 KB

english, 2001

14

Studies of the variability of the hepatocyte nuclear factor-1β (HNF-1β / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and β-cell function

Jakob Ek, Niels Grarup, Søren A. Urhammer, Peter H. Gæde, Thomas Drivsholm, Knut Borch-Johnsen, Torben Hansen, Oluf Pedersen

Journal:

Year:

2001

Language:

english

File:

PDF, 41 KB

english, 2001

15

Oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC

David M. Feldser, Scott E. Kern

Journal:

Year:

2001

Language:

english

File:

PDF, 67 KB

english, 2001

16

Genotype-phenotype comparison of the Swiss malignant hyperthermia population

Thierry Girard, Albert Urwyler, Kathrin Censier, Clemens R. Mueller, Francesco Zorzato, Susan Treves

Journal:

Year:

2001

Language:

english

File:

PDF, 102 KB

english, 2001

17

Determination of Lewis FUT3 gene mutations by PCR using sequence-specific primers enables efficient genotyping of clinical samples

Ammi Grahn, Anders Elmgren, Lena Åberg, Lola Svensson, Per-Anders Jansson, Peter Lönnroth, Göran Larson

Journal:

Year:

2001

Language:

english

File:

PDF, 69 KB

english, 2001

18

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent

Jian Wang, Erin Huff, Lenny Janecka, Robert A. Hegele

Journal:

Year:

2001

Language:

english

File:

PDF, 20 KB

english, 2001

19

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

Jaroslav A. Hubacek, Knut E. Berge, Jonathan C. Cohen, Helen H. Hobbs

Journal:

Year:

2001

Language:

english

File:

PDF, 38 KB

english, 2001

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@1delivery.pm

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