Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 1

Results: 20

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish familes affected with autosomal dominant retinal degenerations.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU11>3.0.CO;2-M

By:

Trujillo, MJ;
Bueno, J;
Osorio, A;
Sanz, R;
Garcia-Sandoval, B;
Ramos, C;
Ayuso, C

Publication type:

Article

A frequent mutation in the acidic proline-rich protein gene, PRH2, causing a Q147K change closely adjacent to the bacterial binding domain of the cognate salivary PRP (Pr1′) in Afro-Americans.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU18>3.0.CO;2-W

By:

Azen, Edwin A.

Publication type:

Article

Zhang C, Liu VWS, Addessi CL, Sheffield DA, Linnane AW, Nagley P (1997) Differential occurrence of mutation in mitochondrial DNA of human skeletal muscle during aging. Hum Mutat 11:360-371.

Published in:: Human Mutation, 1998, v. 12, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)12:1<69::AID-HUMU10>3.0.CO;2-#
Publication type:: Article

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 52, doi. 10.1002/(SICI)1098-1004(1998)12:1<52::AID-HUMU8>3.0.CO;2-K

By:

Olsson, Charlotta;
Zethelius, Björn;
Lagerström-Fermér, Maria;
Asplund, Johan;
Berne, Christian;
Landegren, Ulf

Publication type:

Article

Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G

By:

Cau, Milena;
Cao, Antonio;
Loi, Daniela;
Puddu, Alberto;
Muntoni, Francesco;
Mateddu, Anna;
Melis, Maria Antonietta

Publication type:

Article

Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU14>3.0.CO;2-A

By:

Martin, Roger;
Hockey, Athel;
Walpole, Ian;
Goldblatt, Jack

Publication type:

Article

Proof of 'disease causing' mutation.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M

By:

Cotton, RGH;
Scriver, CR

Publication type:

Article

Deletion analysis of Bulgarian SMA families.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 33, doi. 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y

By:

Jordanova, Albena;
Stoyanova, Violeta;
Uzunova, Maria;
Litvinenko, Ivan;
Kremensky, Ivo

Publication type:

Article

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 59, doi. 10.1002/(SICI)1098-1004(1998)12:1<59::AID-HUMU9>3.0.CO;2-A

By:

Silander, Kaisa;
Meretoja, Päivi;
Juvonen, Vesa;
Ignatius, Jaakko;
Pihko, Helena;
Saarinen, Ari;
Wallden, Tiina;
Herrgård, Eila;
Aula, Pertti;
Savontaus, Marja-Liisa

Publication type:

Article

Pooled analysis of p53 mutations in hematological malignancies.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 4, doi. 10.1002/(SICI)1098-1004(1998)12:1<4::AID-HUMU2>3.0.CO;2-G

By:

Prokocimer, Miron;
Unger, Ron;
Rennert, Hedy S.;
Rotter, Varda;
Rennert, Gad

Publication type:

Article

Mutations of the cationic trypsinogen in hereditary pancreatitis.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 39, doi. 10.1002/(SICI)1098-1004(1998)12:1<39::AID-HUMU6>3.0.CO;2-P

By:

Teich, Niels;
Mössner, Joachim;
Keim, Volker

Publication type:

Article

Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 73, doi. 10.1002/(SICI)1098-1004(1998)12:1<73::AID-HUMU20>3.0.CO;2-F

By:

Herfarth, Klaus K.-F.;
Ogunbiyi, Olagunju A.;
Moley, Jeffrey F.;
Kodner, Ira J.;
Wells, Samuel A.;
Goodfellow, Paul J.

Publication type:

Article

Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z

By:

Benhorin, Jesaia;
Goldmit, Maya;
MacCluer, Jean W.;
Blangero, John;
Goffen, Ruth;
Leibovitch, Ayelet;
Rahat, Ayelet;
Wang, Qing;
Medina, Aaron;
Towbin, Jeffrey;
Kerem, Batsheva

Publication type:

Article

Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 27, doi. 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#

By:

Kubisch, Christian;
Wicklein, Eva M.;
Jentsch, Thomas J.

Publication type:

Article

Novel germline p16<sup>INK4</sup> allele (Asp145Cys) in a family with multiple pancreatic carcinomas.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 70, doi. 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU12>3.0.CO;2-J

By:

Moskaluk, Christopher A.;
Hruban, Ralph H.;
Lietman, Amanda;
Smyrk, Tom;
Fusaro, Lavonne;
Fusaro, Ramon;
Lynch, Jane;
Yeo, Charles J.;
Jackson, Charles E.;
Lynch, Henry T.;
Kern, Scott E.

Publication type:

Article

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 19, doi. 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3

By:

Bergman, AJIW;
van den Berg, IET;
Brink, W;
Poll-The, BT;
Ploos van Amstel, JK;
Berger, R

Publication type:

Article

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4

By:

Mottes, Monica;
Lira, Macarena Gomez;
Zolezzi, Francesca;
Valli, Maurizia;
Lisi, Veronica;
Freising, Peter

Publication type:

Article

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 44, doi. 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O

By:

Ries, Stefan;
Büchler, Christa;
Schindler, Gisela;
Aslanidis, Charalampos;
Ameis, Detlev;
Gasche, Christoph;
Jung, Nikola;
Schambach, Axel;
Fehringer, Petra;
Vanier, Marie T.;
Belli, Dominique C.;
Greten, Heiner;
Schmitz, Gerd

Publication type:

Article

New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy.

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 71, doi. 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU15>3.0.CO;2-7

By:

Misrahi, AM;
Plante, V;
Lalu, T;
Serre, I;
Adams, D;
Lacroix, DC;
Saïd, G

Publication type:

Article

A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T).

Published in:

Human Mutation, 1998, v. 12, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T

By:

Galanello, Renzo;
Loi, Daniela;
Sollaino, Carla;
Dessì, Sandra;
Cao, Antonio;
Melis, Maria Antonietta

Publication type:

Article