Volume 10; Issue 3

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Human Mutation
Volume 10; Issue 3

Human Mutation

Volume 10; Issue 3

1

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

Luc Foubert, Taco Bruin, Jean Luc De Gennes, Ewa Ehrenborg, Jean Furioli, John Kastelein, Pascale Benlian, Michael Hayden

Journal:

Year:

1997

Language:

english

File:

PDF, 180 KB

english, 1997

2

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

Corinne L. Lendon, Alonso Martinez, Isabel Maria Behrens, Kenneth S. Kosik, Lucia Madrigal, Joanne Norton, Rosalind Neuman, Amanda Myers, Frances Busfield, Michelle Wragg, Mauricio Arcos, Juan Carlos

Journal:

Year:

1997

Language:

english

File:

PDF, 216 KB

english, 1997

3

Hereditary coproporphyria: Exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene

William E. Schreiber, Xian Zhang, Janine Senz, Azim Jamani

Journal:

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

4

Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms

Shashi Bala, Zora Sulekova, Wolfgang G. Ballhausen

Journal:

Year:

1997

Language:

english

File:

PDF, 200 KB

english, 1997

5

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

Yvette J. M. de Kok, Cor W. R. J. Cremers, Hans-Hilger Ropers, Frans P. M. Cremers

Journal:

Year:

1997

Language:

english

File:

PDF, 163 KB

english, 1997

6

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Antoni Barrientos, Jordi Casademont, David Genís, Francesc Cardellach, José Manuel Fernández-Real, José María Grau, Alvaro Urbano-Márquez, Xavier Estivill, Virginia Nunes

Journal:

Year:

1997

Language:

english

File:

PDF, 166 KB

english, 1997

7

Novel point mutations in the dystrophin gene

Roberta Sitnik, Simone Campiotto, Mariz Vainzof, Rita C. Pavanello, Reinaldo I. Takata, Mayana Zatz, Maria Rita Passos-Bueno

Journal:

Year:

1997

Language:

english

File:

PDF, 131 KB

english, 1997

8

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

Susanna Bunge, Wim J. Kleijer, Anna Tylki-Szymanska, Cordula Steglich, Michael Beck, Shunji Tomatsu, Seiji Fukuda, Ben J. H. M. Poorthuis, Barbara Czartoryska, Tadao Orii, Andreas Gal

Journal:

Year:

1997

Language:

english

File:

PDF, 202 KB

english, 1997

9

A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia

Bryan K. Ward, Bronwyn G. A. Stuckey, Donald H. Gutteridge, Nigel G. Laing, Peter T. Pullan, Thomas Ratajczak

Journal:

Year:

1997

Language:

english

File:

PDF, 121 KB

english, 1997

10

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

Ludwine Messiaen, Conny Van Loon, Rudi Rossau, Ilse De Canck, Frans De Baets, Eddy Robbrecht, Anne De Paepe

Journal:

Year:

1997

Language:

english

File:

PDF, 126 KB

english, 1997

11

Two novel frameshift deletions (1924del7, 2055del9→A) in the CFTR gene in Mexican cystic fibrosis patients

Lorena Orozco, Julian Zielenski, Danuta Markiewicz, Teresa Villarreal, Lap-Chee Tsui, José Luis Lezana, Rosa M del Angel

Journal:

Year:

1997

Language:

english

File:

PDF, 73 KB

english, 1997

12

Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes

Martin Wehner, Lutz Buschhausen, Christof Lamberti, Roland Kruse, Reiner Caspari, Peter Propping, Waltraut Friedl

Journal:

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

13

G6PD Sumaré: A novel mutation in the G6PD gene (1292 T→G) associated with chronic nonspherocytic anemia

Sara T. O. Saad, Tereza S. I. Salles, Valder R. Arruda, M. Fatima Sonati, Fernando F. Costa

Journal:

Year:

1997

Language:

english

File:

PDF, 106 KB

english, 1997

14

Six novel mutations in the neurofibromatosis type 1 (NF1) gene

M Upadhyaya, J Maynard, M Osborn, PS Harper

Journal:

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

15

Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair

Claudia Menardi, Rainer Schneider, Felizia Neuschmid-Kaspar, Helmut Klocker, Monica Hirsch-Kauffmann, Bernhard Auer, Manfred Schweiger

Journal:

Year:

1997

Language:

english

File:

PDF, 170 KB

english, 1997

16

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Orly N. Elpeleg, Avraham Shaag, Joseph Z. Glustein, Yair Anikster, Adina Joseph, Ann Saada

Journal:

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

17

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3

Cezary Żekanowski, Barbara Cabalska, Piotr Borsuk, Jerzy Bal

Journal:

Year:

1997

Language:

english

File:

PDF, 97 KB

english, 1997

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