Works matching IS 10597794 AND DT 1998 AND VI 12 AND IP 6

Results: 17

Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU12>3.0.CO;2-M

By:

Karsten, Stanislav L.;
Voskoboeva, Elena;
Carlberg, Britt-Marie;
Kleijer, Wim J.;
Tönnesen, T;
Pettersson, Ulf;
Bondeson, Marie-Louise

Publication type:

Article

Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU13>3.0.CO;2-J

By:

Quaresima, Barbara;
Grandinetti, Cristina;
Baudi, Francesco;
Tassone, PierFrancesco;
Barbieri, Vito;
Conforti, Serafino;
Avvedimento, Enrico V.;
Costanzo, Francesco;
Venuta, Salvatore

Publication type:

Article

Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 370, doi. 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S

By:

Tsai, Chang-Hai;
Tsai, Fuu-Jen;
Wu, Jer-Yuarn;
Chang, Jang-Gowth;
Lee, Cheng-Chun;
Lin, Shuan-Pei;
Yang, Chi-Fan;
Jong, Yuh-Jyh;
Lo, Man-Chi

Publication type:

Article

Description of a novel RFLP diallelic polymorphism (-127 BsgI C/G) within the 5′ region of insulin gene.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 435, doi. 10.1002/(SICI)1098-1004(1998)12:6<435::AID-HUMU17>3.0.CO;2-1

By:

Fajardy, Isabelle;
Weill, Jacques;
Stuckens, Chantal;
Danzé, Pierre-Marie;
the CCB group

Publication type:

Article

Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 403, doi. 10.1002/(SICI)1098-1004(1998)12:6<403::AID-HUMU6>3.0.CO;2-X

By:

Corrigall, Anne V.;
Hift, Richard J.;
Hancock, Valerie;
Meissner, Doreen;
Davids, Lester;
Kirsch, Ralph E.;
Meissner, Peter N.

Publication type:

Article

Mutation Database Meeting, 27th March 1998.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 367, doi. 10.1002/(SICI)1098-1004(1998)12:6<367::AID-HUMU1>3.0.CO;2-R

By:

Auerbach, Arleen D.;
Cotton, Richard G. H.

Publication type:

Article

Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 434, doi. 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7

By:

Yilmaz, S;
Horsthemke, B;
Lohmann, DR

Publication type:

Article

Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 393, doi. 10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A

By:

Laprise, Shari L.;
Mak, Elsa K.;
Killoran, Katherine A.;
Layman, Lawrence C.;
Gray, Mark R.

Publication type:

Article

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 424, doi. 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H

By:

Olschwang, Sylviane;
Richard, Stéphane;
Boisson, Cécile;
Giraud, Sophie;
Laurent-Puig, Pierre;
Resche, François;
Thomas, Gilles

Publication type:

Article

Response to Vincent and Gurling.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 432, doi. 10.1002/(SICI)1098-1004(1998)12:6<432::AID-HUMU11>3.0.CO;2-S

By:

Wang, Yi-Chun;
Li, Shuan-Yow

Publication type:

Article

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 408, doi. 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P

By:

Beauchamp, Roberta L.;
Banwell, Ashleigh;
McNamara, Patrick;
Jacobsen, Matthew;
Higgins, Erica;
Northrup, Hope;
Short, Priscilla;
Sims, Katherine;
Ozelius, Laurie;
Ramesh, Vijaya

Publication type:

Article

Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2).

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 434, doi. 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.0.CO;2-A

By:

Oetting, WS;
Gardner, JM;
Fryer, JP;
Ching, A;
Durham-Pierre, D;
King, RA;
Brilliant, MH

Publication type:

Article

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K

By:

Stolle, Catherine;
Glenn, Gladys;
Zbar, Berton;
Humphrey, Jeffrey S.;
Choyke, Peter;
Walther, McClellan;
Pack, Svetlanna;
Hurley, Kathy;
Andrey, Carolyn;
Klausner, Richard;
Linehan, W. Marston

Publication type:

Article

Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 431, doi. 10.1002/(SICI)1098-1004(1998)12:6<431::AID-HUMU10>3.0.CO;2-Y

By:

Vincent, JB;
Gurling, Hugh M. D.

Publication type:

Article

Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1).

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 433, doi. 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU14>3.0.CO;2-G

By:

Oetting, WS;
Fryer, JP;
King, RA

Publication type:

Article

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 377, doi. 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I

By:

Sillén, Anna;
Anton-Lamprecht, Ingrun;
Braun-Quentin, Cordula;
Kraus, Cornelia S.;
Sayli, Bekir Sitki;
Ayuso, Carmen;
Jagell, Sten;
Küster, Wolfgang;
Wadelius, Claes

Publication type:

Article

Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 1998, v. 12, n. 6, p. 385, doi. 10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E

By:

Tesson, Frédérique;
Richard, Pascale;
Charron, Philippe;
Mathieu, Bénédicte;
Cruaud, Corinne;
Carrier, Lucie;
Dubourg, Olivier;
Lautié, Nicole;
Desnos, Michel;
Millaire, Alain;
Isnard, Richard;
Hagege, Alain Albert;
Bouhour, Jean-Brieuc;
Bennaceur, Mohammed;
Hainque, Bernard;
Guicheney, Pascale;
Schwartz, Ketty;
Komajda, Michel

Publication type:

Article