Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 3

Results: 15

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative β-ketothiolase deficiency.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 277, doi. 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#

By:

Fukao, Toshiyuki;
Song, Xiang-Qian;
Yamaguchi, Seiji;
Kondo, Naomi;
Orii, Tadao;
Matthieu, Jean-Marie;
Bachmann, Claude;
Hashimoto, Takashi

Publication type:

Article

Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 289, doi. 10.1002/(SICI)1098-1004(1997)9:3<289::AID-HUMU15>3.0.CO;2-Z

By:

Zelada-Hedman, Moraima;
Børresen-Dale, Anne-Lise;
Lindblom, Annika

Publication type:

Article

A clinical overview of WT1 gene mutations.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2

By:

Little, Melissa;
Wells, Christine

Publication type:

Article

Mutations and DNA diagnoses of classical citrullinemia.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 250, doi. 10.1002/(SICI)1098-1004(1997)9:3<250::AID-HUMU6>3.0.CO;2-B

By:

Kakinoki, Hiroshige;
Kobayashi, Keiko;
Terazono, Hiroki;
Nagata, Yukihiro;
Saheki, Takeyori

Publication type:

Article

A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 274, doi. 10.1002/(SICI)1098-1004(1997)9:3<274::AID-HUMU10>3.0.CO;2-#

By:

Mavroidis, Nicholas;
Traeger-Synodinos, Joanne;
Kanavakis, Emmanuel;
Drogari, Eurydiki;
Matsaniotis, Nicholas;
Humphries, Steve E.;
Day, Ian N. M.;
Kattamis, Christos

Publication type:

Article

Germline versus somatic mutations of the APC gene: Evidence for mechanistic differences.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 286, doi. 10.1002/(SICI)1098-1004(1997)9:3<286::AID-HUMU14>3.0.CO;2-Z

By:

Marshall, Brendan;
Isidro, Gloria;
Carvalhas, Raquel;
Boavida, Maria Guida

Publication type:

Article

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 195, doi. 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7

By:

Myerowitz, Rachel

Publication type:

Article

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 243, doi. 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8

By:

Seri, Marco;
Yin, Luo;
Barone, Virginia;
Bolino, Alessandra;
Celli, Iacopo;
Bocciardi, Renata;
Pasini, Barbara;
Ceccherini, Isabella;
Lerone, Margherita;
Kristoffersson, Ulf;
Larsson, Lars T.;
Casasa, Josep Maria;
Cass, Daniel T.;
Abramowicz, Marc Joel;
Vanderwinden, Jean-Marie;
Kravčenkiene, Ingrida;
Baric, Ivo;
Silengo, Margherita;
Martucciello, Giuseppe;
Romeo, Giovanni

Publication type:

Article

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1997)9:3<272::AID-HUMU9>3.0.CO;2-9

By:

Rivera, Isabel;
Leandro, Paula;
Lichter-Konecki, Uta;
Tavares de Almeida, Isabel;
Lechner, Maria Celeste

Publication type:

Article

G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 282, doi. 10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z

By:

Beutler, Ernest;
Westwood, Beryl;
van Zwieten, R;
Roos, Dirk

Publication type:

Article

Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 234, doi. 10.1002/(SICI)1098-1004(1997)9:3<234::AID-HUMU4>3.0.CO;2-7

By:

Draghia, Ruxandra;
Letourneur, Franck;
Drugan, Cristina;
Manicom, Jeanne;
Blanchot, Christophe;
Kahn, Axel;
Poenaru, Livia;
Caillaud, Catherine

Publication type:

Article

Quantitative allele-specific PCR: Demonstration of age-associated accumulation in human tissues of the A→G mutation at nucleotide 3243 in mitochondrial DNA.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 265, doi. 10.1002/(SICI)1098-1004(1997)9:3<265::AID-HUMU8>3.0.CO;2-6

By:

Liu, Vincent W. S.;
Zhang, Chunfang;
Linnane, Anthony W.;
Nagley, Phillip

Publication type:

Article

Complex trinucleotide repeat polymorphism in the HOX B6 gene.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1997)9:3<280::AID-HUMU12>3.0.CO;2-Z

By:

O'Brien, S;
Even, DA;
Murray, JC

Publication type:

Article

Screening and biochemical characterization of transthyretin variants in the Portuguese population.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 226, doi. 10.1002/(SICI)1098-1004(1997)9:3<226::AID-HUMU3>3.0.CO;2-5

By:

Alves, Isabel L.;
Altland, Klaus;
Almeida, Maria Rosário;
Winter, Pia;
Saraiva, Maria João M.

Publication type:

Article

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.

Published in:

Human Mutation, 1997, v. 9, n. 3, p. 260, doi. 10.1002/(SICI)1098-1004(1997)9:3<260::AID-HUMU7>3.0.CO;2-B

By:

Drucker, Liat;
Golan, Agi;
Boles, Debra J.;
El Bedour, Khalil;
Proia, Richard L.;
Navon, Ruth

Publication type:

Article