Volume 18; Issue 3

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Human Mutation
Volume 18; Issue 3

Human Mutation

Volume 18; Issue 3

1

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype–phenotype relationship

Niels Gregersen, Brage S. Andresen, Morten J. Corydon, Thomas J. Corydon, Rikke K.J. Olsen, Lars Bolund, Peter Bross

Journal:

Year:

2001

Language:

english

File:

PDF, 654 KB

english, 2001

2

RNase cleavage-based methods for mutation/SNP detection, past and present

Marianna M. Goldrick

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Year:

2001

Language:

english

File:

PDF, 598 KB

english, 2001

3

APECED mutations in the autoimmune regulator (AIRE) gene

Maarit Heino, Pärt Peterson, Jun Kudoh, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Hamish S. Scott, Kai Krohn

Journal:

Year:

2001

Language:

english

File:

PDF, 336 KB

english, 2001

4

High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis

Stéphane Bezieau, Marie-Claire Devilder, Hervé Avet-Loiseau, Marie-Paule Mellerin, Denis Puthier, Erwan Pennarun, Marie-José Rapp, Jean-Luc Harousseau, Jean-Paul Moisan, Régis Bataille

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Year:

2001

Language:

english

File:

PDF, 582 KB

english, 2001

5

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

Daniela Cihakova, Katarina Trebusak, Maarit Heino, Valentin Fadeyev, Anatoly Tiulpakov, Tadej Battelino, Attila Tar, Zita Halász, Peter Blümel, Sameh Tawfik, Kai Krohn, Jan Lebl, Pärt Peterson

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Year:

2001

Language:

english

File:

PDF, 365 KB

english, 2001

6

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

Pia Höglund, Markus Sormaala, Siru Haila, Jerzy Socha, Usha Rajaram, W. Scheurlen, Maarten Sinaasappel, Hugo De Jonge, Christer Holmberg, Hideto Yoshikawa, Juha Kere

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Year:

2001

Language:

english

File:

PDF, 590 KB

english, 2001

7

Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis

L. Lodewyckx, C. Vandevyver, C. Vandervorst, W. Van Steenbergen, J. Raus, L. Michiels

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Year:

2001

Language:

english

File:

PDF, 380 KB

english, 2001

8

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

Paolo Comeglio, Alison L. Evans, Glen W. Brice, Anne H. Child

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Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

9

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

Thierry Bienvenu, Isabelle Souville, Karine Poirier, Cécile Aquaviva, Lydie Burglen, Jeanne Amiel, Bénédicte Héron, Anna Kaminska, Philippe Couvert, Cherif Beldjord, Jamel Chelly

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Year:

2001

Language:

english

File:

PDF, 21 KB

english, 2001

10

Molecular basis of phenylketonuria in Cuba

L.R. Desviat, B. Pérez, E. Gutierrez, A. Sánchez, B. Barrios, M. Ugarte

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Year:

2001

Language:

english

File:

PDF, 20 KB

english, 2001

11

Identification of four novel RB1 germline mutations in Korean retinoblastoma patients

Young Suk Yu, Il-Jin Kim, Ja-Lok Ku, Jae-Gahb Park

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Year:

2001

Language:

english

File:

PDF, 37 KB

english, 2001

12

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients

Viera Kuhrová, Hana Francová, Petra Zapletalová, Tomáš Freiberger, Lenka Fajkusová, Eva Hrabincová, Romana Slováková, Libor Kozák

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Year:

2001

Language:

english

File:

PDF, 31 KB

english, 2001

13

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation

Yasukazu Yamada, Kiyokuni Miura, Toshiyuki Kumagai, Chiemi Hayakawa, Shuji Miyazaki, Akiko Matsumoto, Kenji Kurosawa, Noriko Nomura, Hiroko Taniguchi, Shin-Ichi Sonta, Tsutomu Yamanaka, Nobuaki Wakama

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

14

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis

Chi-Fan Yang, Fuu-Jen Tsai, Shuan-Pei Lin, Cheng-Chun Lee, Jer-Yuarn Wu

Journal:

Year:

2001

Language:

english

File:

PDF, 17 KB

english, 2001

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