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

Results: 18

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
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
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
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
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
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
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
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
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
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
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