Volume 13; Issue 3

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Human Mutation
Volume 13; Issue 3

Human Mutation

Volume 13; Issue 3

1

Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects

Matthew G. Mutch, William G. Dilley, Francisco Sanjurjo, Mary K. DeBenedetti, Gerard M. Doherty, Samuel A. Wells Jr., Paul J. Goodfellow, Terry C. Lairmore

Journal:

Year:

1999

Language:

english

File:

PDF, 463 KB

english, 1999

2

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

Olaug K. Rødningen, Serena Tonstad, Ola Didrik Saugstad, Leiv Ose, Trond P. Leren

Journal:

Year:

1999

Language:

english

File:

PDF, 409 KB

english, 1999

3

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Sandrine Marie, Harry Cuppens, Michel Heuterspreute, Martine Jaspers, Eduardo Zambrano Tola, Xiao Xiao Gu, Eric Legius, M.-Françoise Vincent, Jaak Jaeken, Jean-Jacques Cassiman, Georges Van den Berghe

Journal:

Year:

1999

Language:

english

File:

PDF, 282 KB

english, 1999

4

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring

Massoud Houshmand, Christopher Lindberg, Ali-Reza Moslemi, Anders Oldfors, Elisabeth Holme

Journal:

Year:

1999

Language:

english

File:

PDF, 459 KB

english, 1999

5

Novel mutations associated with carnitine palmitoyltransferase II deficiency

R. Thomas Taggart, David Smail, Christopher Apolito, Georgirene D. Vladutiu

Journal:

Year:

1999

Language:

english

File:

PDF, 485 KB

english, 1999

6

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Rhett P. Ketterling, Joni B. Drost, William A. Scaringe, Dong-zhou Liao, Jing-zhong Liu, Carol K. Kasper, Steve S. Sommer

Journal:

Year:

1999

Language:

english

File:

PDF, 497 KB

english, 1999

7

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion

Ioannis Panagopoulos, Carin Lassen, Ulf Kristoffersson, Pierre Åman

Journal:

Year:

1999

Language:

english

File:

PDF, 332 KB

english, 1999

8

The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability

Akira Tachibana, Takesi Kato, Yosuke Ejima, Toshiko Yamada, Takashi Shimizu, Lichun Yang, Yukiko Tsunematsu, Masao S. Sasaki

Journal:

Year:

1999

Language:

english

File:

PDF, 360 KB

english, 1999

9

Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction

Sandeep Raha, Frank Merante, Eric Shoubridge, A. Tomoko Myint, Ingrid Tein, Lee Benson, Tim Johns, Brian H. Robinson

Journal:

Year:

1999

Language:

english

File:

PDF, 475 KB

english, 1999

10

Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Searl Legum, Ruth Shomrat, Hannah Yeger, Dalit Benbenisti, Ruth Navon, Vardit Dror, Mordechai Shohat, Nurit Magal, Nir Navot, and Nurit Eyal. 1998. Prevalance of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 12:240-244.

Journal:

Year:

1999

File:

PDF, 54 KB

1999

11

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK

Mark S. Palmer, Jonathan A. Beck, Tracy A. Campbell, Christine B. Humphries, Penelope K. Roques, Nick C. Fox, Richard Harvey, Martin N. Rossor, John Collinge

Journal:

Year:

1999

Language:

english

File:

PDF, 61 KB

english, 1999

12

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Kathleen Claes, Eva Machackova, Michel De Vos, Geert Mortier, Anne De Paepe, Ludwine Messiaen

Journal:

Year:

1999

Language:

english

File:

PDF, 41 KB

english, 1999

13

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients

Maria I. Scarano, Marina De Rosa, Luigi Panariello, Nicola Carlomagno, Gabriele Riegler, Giovanni B. Rossi, Luigi Bucci, Giuseppe Pesce, Federico Toni, Andrea Renda, Paola Izzo

Journal:

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

14

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

Margit Ebhardt, Hartmut Schmidt, Thilo Doerk, Uwe Tietge, Regina Haas, Michael-Peter Manns, Joerg Schmidtke, Manfred Stuhrmann

Journal:

Year:

1999

Language:

english

File:

PDF, 29 KB

english, 1999

15

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

Roland Kruse, Siegfried Uhlhaas, Christof Lamberti, Klaus M. Keller, Christian Jackisch, Johannes Steinhard, Gisela Knöpfle, Steffan Loff, Walter Back, Manfred Stolte, Matthias Jungck, Peter Propping,

Journal:

Year:

1999

Language:

english

File:

PDF, 248 KB

english, 1999

16

β-thalassemia in the German population: Mediterranean, Asian and novel mutations

Gebhard Flatz, Klaus Wilke, Yana V. Syagailo, Antonin Eigel, Jürgen Horst

Journal:

Year:

1999

Language:

english

File:

PDF, 52 KB

english, 1999

17

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients

Hartmut Peters, Andrea Lüder, Anja Harder, Markus Schuelke, Sigrid Tinschert

Journal:

Year:

1999

Language:

english

File:

PDF, 17 KB

english, 1999

18

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1

Pierre-André Duval, Françoise Marlhens, Jean-Michel Griffoin, Pierre Millet, Bernard Arnaud, Christian P. Hamel

Journal:

Year:

1999

Language:

english

File:

PDF, 9 KB

english, 1999

19

A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene

Anja Harder, Carmen Macsuga, Sigrid Tinschert, Peter Nürnberg, Hartmut Peters

Journal:

Year:

1999

Language:

english

File:

PDF, 9 KB

english, 1999

20

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

Grace Gathungu, Hung Jeff Kim, Robert J. Morell

Journal:

Year:

1999

Language:

english

File:

PDF, 10 KB

english, 1999

21

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6)

Isabel Aguilera, José-Raúl García-Lozano, Juan Bautista, Antonio Núñez-Roldán

Journal:

Year:

1999

Language:

english

File:

PDF, 11 KB

english, 1999

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