Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 2

Results: 19

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY).

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU13>3.0.CO;2-V

By:

Guazzini, Barbara;
Gaffi, Davide;
Mainieri, Davide;
Multari, Giuseppe;
Cordera, Renzo;
Bertolini, Stefano;
Pozza, Guido;
Meschi, Franco;
Barbetti, Fabrizio

Publication type:

Article

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

By:

Feshchenko, Sergej;
Brinckmann, Jürgen;
Lehmann, Hartwig W.;
Koch, Hans-Georg;
Müller, Peter K.;
Kügler, Sebastian

Publication type:

Article

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 75, doi. 10.1002/(SICI)1098-1004(1998)12:2<75::AID-HUMU1>3.0.CO;2-T

By:

Agarwal, Sunita K.;
Debelenko, Larisa V.;
Kester, Mary Beth;
Guru, Siradanahalli C.;
Manickam, Pachiappan;
Olufemi, Shodimu-Emmanuel;
Skarulis, Monica C.;
Heppner, Christina;
Crabtree, Judy S.;
Lubensky, Irina A.;
Zhuang, Zhengping;
Kim, Young S.;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Liotta, Lance A.;
Spiegel, Allen M.;
Burns, A. Lee;
Emmert-Buck, Michael R.;
Marx, Stephen J.

Publication type:

Article

Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 103, doi. 10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6

By:

States, JC;
McDuffie, ER;
Myrand, SP;
McDowell, M;
Cleaver, JE

Publication type:

Article

Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU9>3.0.CO;2-K

By:

Booth, DR;
Gillmore, JD;
Persey, MR;
Booth, SE;
Cafferty, KD;
Tennent, GA;
Madhoo, S;
Cochrane, SW;
Whitehead, TC;
Pasvol, G;
Hawkins, PN

Publication type:

Article

Niemann Pick disease type A in Israeli Arabs: 677delT, a common novel single mutation.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU12>3.0.CO;2-Y

By:

Gluck, Iris;
Zeigler, Marsha;
Bargal, Ruth;
Schiff, Elena;
Bach, Gideon

Publication type:

Article

C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J

By:

Szalai, Csaba;
Triga, Dimitra;
Czinner, Antal

Publication type:

Article

Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 95, doi. 10.1002/(SICI)1098-1004(1998)12:2<95::AID-HUMU4>3.0.CO;2-E

By:

Rødningen, Olaug K.;
Tonstad, Serena;
Ose, Leiv;
Berg, Kåre;
Leren, Trond P.

Publication type:

Article

A new set of primers for mutation analysis of the human PAX6 gene.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 128, doi. 10.1002/(SICI)1098-1004(1998)12:2<128::AID-HUMU8>3.0.CO;2-N

By:

Love, James;
Axton, Richard;
Churchill, Amanda;
van Heyningen, Veronica;
Hanson, Isabel

Publication type:

Article

A nonsense mutation (R242X) in the branched-chain α-keto acid dehydrogenase E1α subunit gene (BCKDHA) as a cause of maple syrup urine disease.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU11>3.0.CO;2-0

By:

Chinsky, Jeffrey;
Appel, Melissa;
Almashanu, Shlomo;
Costeas, Paul;
Ambulos, Nicholas;
Carmi, Rivka

Publication type:

Article

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU15>3.0.CO;2-M

By:

Klaus, Daniel J.;
Gallione, Carol J.;
Anthony, Kara;
Yeh, Eric Y.;
Yu, Jing;
Lux, Andreas;
Johnson, David W.;
Marchuk, Douglas A.

Publication type:

Article

A novel homozygous nonsense mutation E135* in the type II 3β-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 139, doi. 10.1002/(SICI)1098-1004(1998)12:2<139::AID-HUMU19>3.0.CO;2-4

By:

Marui, Suemi;
Torrealba, Isabel M.;
Russell, Alan J.;
Latronico, Ana C.;
Sutcliffe, Roger G.;
Mendonca, Berenice B.

Publication type:

Article

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 83, doi. 10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P

By:

Song, Xiang-Qian;
Fukao, Toshiyuki;
Watanabe, Hiroh;
Shintaku, Haruo;
Hirayama, Ken;
Kassovska-Bratinova, Sacha;
Kondo, Naomi;
Mitchell, Grant A.

Publication type:

Article

Exons - Introns = Lexons: In-frame concatenation of exons by PCR.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 122, doi. 10.1002/(SICI)1098-1004(1998)12:2<122::AID-HUMU7>3.0.CO;2-W

By:

Tuohy, Thérèse M. F.;
Groden, Joanna

Publication type:

Article

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 135, doi. 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6

By:

Mendell, Joshua T.;
Panicker, Shirly G.;
Tsao, Chang-Yong;
Feng, Bo;
Sahenk, Zarife;
Marzluf, George A.;
Mendell, Jerry R.

Publication type:

Article

A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS).

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 137, doi. 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU14>3.0.CO;2-P

By:

Grau, Ulrich;
Klein, Hanns-Georg;
Detter, Christian;
Mair, Helmut;
Welz, Armin;
Seidel, Dietrich;
Reichart, Bruno

Publication type:

Article

Identification of novel PAX6 mutations in two families with bilateral aniridia.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU18>3.0.CO;2-A

By:

Neuner-Jehle, Martin;
Munier, Francis;
Kobetz, Alexandra;
Sahly, Iman;
Uteza, Yves;
Mermoud, André;
Schorderet, Daniel F.;
Dufier, Jean-Louis;
Abitbol, Marc

Publication type:

Article

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G

By:

Loudianos, Georgios;
Dessì, Valeria;
Lovicu, Mario;
Angius, Andrea;
Nurchi, Annamaria;
Sturniolo, Giacomo Carlo;
Marcellini, Matilde;
Zancan, Lucia;
Bragetti, Patrizia;
Akar, Nejat;
Yagci, Rasit;
Vegnente, Angela;
Cao, Antonio;
Pirastu, Mario

Publication type:

Article

Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 114, doi. 10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#

By:

Otero, Lucy J.;
Brown, Ruth M.;
Brown, Garry K.

Publication type:

Article