Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 3

Results: 21

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 221, doi. 10.1002/(SICI)1098-1004(1999)13:3<221::AID-HUMU6>3.0.CO;2-U

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 175, doi. 10.1002/(SICI)1098-1004(1999)13:3<175::AID-HUMU1>3.0.CO;2-R

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 245, doi. 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU20>3.0.CO;2-I

By:

Gathungu, Grace;
Kim, Hung Jeff;
Morell, Robert J.

Publication type:

Article

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 210, doi. 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU13>3.0.CO;2-J

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU16>3.0.CO;2-4

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 203, doi. 10.1002/(SICI)1098-1004(1999)13:3<203::AID-HUMU4>3.0.CO;2-3

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU11>3.0.CO;2-P

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 237, doi. 10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU19>3.0.CO;2-T

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 232, doi. 10.1002/(SICI)1098-1004(1999)13:3<232::AID-HUMU7>3.0.CO;2-N

By:

Panagopoulos, Ioannis;
Lassen, Carin;
Kristoffersson, Ulf;
Åman, Pierre

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 257, doi. 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A

By:

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

Publication type:

Article

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.

Published in:: Human Mutation, 1999, v. 13, n. 3, p. 255, doi. 10.1002/(SICI)1098-1004(1999)13:3<255::AID-HUMU10>3.0.CO;2-V
Publication type:: Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU21>3.0.CO;2-F

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 257, doi. 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU14>3.0.CO;2-D

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU18>3.0.CO;2-W

By:

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

Publication type:

Article

Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 3

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

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.

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

Repopulation of ρ<sup>0</sup> cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA<sup>Gly</sup> results in respiratory chain dysfunction.

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

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

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

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.

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

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

A novel heteroplasmic point mutation in the mitochondrial tRNA<sup>Lys</sup> gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring.

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

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

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

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

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

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

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

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

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