Volume 18; Issue 5

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Human Mutation
Volume 18; Issue 5

Human Mutation

Volume 18; Issue 5

1

Missense mutations of human homeoboxes: A review

Angela V. D’Elia, Gianluca Tell, Igor Paron, Lucia Pellizzari, Renata Lonigro, Giuseppe Damante

Journal:

Year:

2001

Language:

english

File:

PDF, 550 KB

english, 2001

2

Mutations in BTD causing biotinidase deficiency

Jeanne Hymes, Christine M. Stanley, Barry Wolf

Journal:

Year:

2001

Language:

english

File:

PDF, 289 KB

english, 2001

3

Go!Poly: A gene-oriented polymorphism database

Ge Zhang, Sizhong Zhang, Wei Chen, Weimin Qiu, Hui Wu, Jianmin Wang, Jingchu Luo, Xiaocheng Gu, Richard G.H. Cotton

Journal:

Year:

2001

Language:

english

File:

PDF, 385 KB

english, 2001

4

Structural and functional analysis of a new desmin variant causing desmin-related myopathy

Bertrand Goudeau, Ayush Dagvadorj, Fernando Rodrigues-Lima, Patrick Nédellec, Monique Casteras-Simon, Emmanuelle Perret, Sylvie Langlois, Lev Goldfarb, Patrick Vicart

Journal:

Year:

2001

Language:

english

File:

PDF, 645 KB

english, 2001

5

Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597⁁598insIVS4)

Abdalla A. Abed, Klaus Günther, Cornelia Kraus, Werner Hohenberger, Wolfgang G. Ballhausen

Journal:

Year:

2001

Language:

english

File:

PDF, 606 KB

english, 2001

6

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Lilia D’Souza-Li, Lucie Canaff, Natasa Janicic, David E.C. Cole, Geoffrey N. Hendy

Journal:

Year:

2001

Language:

english

File:

PDF, 595 KB

english, 2001

7

Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41

Yoriko Watanabe, Jeffrey C. Murray, Bryan C. Bjork, Christine P. Bird, P.-W. Chiang, Simon G. Gregory, David M. Kurnit, Brian C. Schutte

Journal:

Year:

2001

Language:

english

File:

PDF, 624 KB

english, 2001

8

A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome

Makiko Mizunuma, Shin Fujimori, Hitoshi Ogino, Takamasa Ueno, Hirokazu Inoue, Naoyuki Kamatani

Journal:

Year:

2001

Language:

english

File:

PDF, 507 KB

english, 2001

9

Variability of the CD36 gene in West Africa

Annette Gelhaus, Andreas Scheding, Edmund Browne, Gerd D. Burchard, Rolf D. Horstmann

Journal:

Year:

2001

Language:

english

File:

PDF, 328 KB

english, 2001

10

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

Lars Allan Larsen, Martin Johnson, Candia Brown, Michael Christiansen, Rune Frank-Hansen, Jens Vuust, Paal Skytt Andersen

Journal:

Year:

2001

Language:

english

File:

PDF, 369 KB

english, 2001

11

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

Jeanette D. Hamlington, Cheron Jones, Iain McIntosh

Journal:

Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

12

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis

Ana B. García-García, José T. Real, Oscar Puig, Elvira Cebolla, Pablo Marín-García, Jose I. Martínez Ferrandis, Magdalena García-Sogo, Miguel Civera, Juan F. Ascaso, Rafael Carmena, M. Eugenia Armengo

Journal:

Year:

2001

Language:

english

File:

PDF, 40 KB

english, 2001

13

Fabry disease: 20 novel GLA mutations in 35 families

Diana Blaydon, Jane Hill, Bryan Winchester

Journal:

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

14

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

Anna Jakubowska, Stanislaw Zajaczek, Olga Haus, Janusz Limon, Ewa Kostyk, Zofia Krzystolik, Jan Lubinski

Journal:

Year:

2001

Language:

english

File:

PDF, 117 KB

english, 2001

15

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

S. Salvi, C. Dionisi-Vici, E. Bertini, M. Verardo, F.M. Santorelli

Journal:

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

16

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Israela Lerer, Michal Sagi, Ziva Ben-Neriah, Tieling Wang, Haya Levi, Dvorah Abeliovich

Journal:

Year:

2001

Language:

english

File:

PDF, 92 KB

english, 2001

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