Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 5

Results: 18

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU13>3.0.CO;2-X

By:

Choy, Francis Y. M.;
Humphries, M. Lisa;
Ben-Yoseph, Yoav

Publication type:

Article

The 1396del a mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU18>3.0.CO;2-C

By:

Vidal, Véronique;
Bay, Jacques-Olivier;
Champomier, Françoise;
Grancho, Maria;
Beauville, Laurence;
Glowaczower, Cécile;
Lemery, Didier;
Ferrara, Marc;
Bignon, Yves-Jean

Publication type:

Article

Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 360, doi. 10.1002/(SICI)1098-1004(1998)11:5<360::AID-HUMU3>3.0.CO;2-U

By:

Zhang, Chunfang;
Liu, Vincent W. S.;
Addessi, Corrado L.;
Sheffield, David A.;
Linnane, Anthony W.;
Nagley, Phillip

Publication type:

Article

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 395, doi. 10.1002/(SICI)1098-1004(1998)11:5<395::AID-HUMU7>3.0.CO;2-4

By:

Sarafova, Adriana P.;
Choi, Hyeon;
Forlino, Antonella;
Gajko, Anna;
Cabral, Wayne A.;
Tosi, Laura;
Reing, C. Michael;
Marini, Joan C.

Publication type:

Article

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.0.CO;2-F

By:

Cenarro, Ana;
Jensen, Henrik K.;
Casao, Elena;
Civeira, Fernando;
González-Bonillo, José;
Rodríguez-Rey, José C.;
Gregersen, Niels;
Pocoví, Miguel

Publication type:

Article

Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU12>3.0.CO;2-#

By:

Mammarella, Sandra;
Creati, Beatrice;
Esposito, Diana L.;
Arcuri, Paola;
Della Loggia, Fulvio;
Capani, Fabio;
Mariani-Costantini, Renato;
Caramia, Felice Giacomo;
Battista, Pasquale;
Cama, Alessandro

Publication type:

Article

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 387, doi. 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8

By:

Scott, DA;
Kraft, ML;
Carmi, R;
Ramesh, A;
Elbedour, K;
Yairi, Y;
Srisailapathy, C. R. Srikumari;
Rosengren, SS;
Markham, AF;
Mueller, RF;
Lench, NJ;
Van Camp, G;
Smith, RJH;
Sheffield, VC

Publication type:

Article

Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q

By:

Villani, Guglielmo R. D.;
Balzano, Nicola;
Di Natale, Paola

Publication type:

Article

Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 354, doi. 10.1002/(SICI)1098-1004(1998)11:5<354::AID-HUMU2>3.0.CO;2-W

By:

De Lucca, Marisel;
Pérez, Belén;
Desviat, Lourdes R.;
Ugarte, Magdalena

Publication type:

Article

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8

By:

Norrgard, Karen J.;
Pomponio, Robert J.;
Swango, Katie L.;
Hymes, Jeanne;
Reynolds, Thomas;
Buck, Gregory A.;
Wolf, Barry

Publication type:

Article

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 372, doi. 10.1002/(SICI)1098-1004(1998)11:5<372::AID-HUMU4>3.0.CO;2-M

By:

Heit, John A.;
Thorland, Erik C.;
Ketterling, Rhett P.;
Lind, Tammy J.;
Daniels, Todd M.;
Zapata, Renee Eyzaguirre;
Ordonez, Saul Mendoza;
Kasper, Carol K.;
Sommer, Steve S.

Publication type:

Article

Rapid, efficient method for multiplex amplification from filter paper.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 404, doi. 10.1002/(SICI)1098-1004(1998)11:5<404::AID-HUMU8>3.0.CO;2-S

By:

Caggana, Michele;
Conroy, James M.;
Pass, Kenneth A.

Publication type:

Article

The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I

By:

Beesley, Clare E.;
Child, Anne H.;
Yacoub, Magdi H.

Publication type:

Article

Chemical cleavage of mismatch: A new look at an established method.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 345, doi. 10.1002/(SICI)1098-1004(1998)11:5<345::AID-HUMU1>3.0.CO;2-0

By:

Ellis, Timothy P.;
Humphrey, Karen E.;
Smith, Margaret J.;
Cotton, Richard G. H.

Publication type:

Article

Analysis of CpG C-to-T mutations in neurofibromatosis type 1.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 411, doi. 10.1002/(SICI)1098-1004(1998)11:5<411::AID-HUMU11>3.0.CO;2-2

By:

Krkljus, Sofia;
Abernathy, Corinne R.;
Johnson, Jennifer S.;
Williams, Charles A.;
Driscoll, Daniel J.;
Zori, Roberto;
Stalker, Heather J.;
Rasmussen, Sonja A.;
Collins, Francis S.;
Kousseff, Boris G.;
Baumbach, Lisa;
Wallace, Margaret R.

Publication type:

Article

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E

By:

Wataya, Kaoru;
Akanuma, Jun;
Cavadini, Patrizia;
Aoki, Yoko;
Kure, Shigeo;
Invernizzi, Federica;
Yoshida, Ichiro;
Kira, Jun-ichi;
Taroni, Franco;
Matsubara, Yoichi;
Narisawa, Kuniaki

Publication type:

Article

Identification of cystic fibrosis mutations in the United Arab Emirates.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O

By:

Frossard, Philippe M.;
Girodon, Emmanuelle;
Dawson, Kenneth P.;
Ghanem, Nada;
Plassa, François;
Lestringant, Gilles G.;
Goossens, Michel

Publication type:

Article

α-thalassaemia due to a single codon deletion in the α-1-globin gene. Computational structural analysis of the new α-chain variant.

Published in:

Human Mutation, 1998, v. 11, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU14>3.0.CO;2-R

By:

Ayala, Sonia;
Colomer, Dolors;
Gelpí, Josep Lluís;
Corrons, Joan Lluís Vives

Publication type:

Article