Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 5

Results: 20

Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 385, doi. 10.1002/(SICI)1098-1004(1999)13:5<385::AID-HUMU7>3.0.CO;2-2

By:

Ohlsson, Gita;
Müller, Jørn;
Schwartz, Marianne

Publication type:

Article

Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU11>3.0.CO;2-T

By:

McManus, Julie F.;
Begley, C. Glenn;
Sassa, S.;
Ratnaike, Sujiva

Publication type:

Article

Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E

By:

Strmecki, Lana;
Benedik-Dolnicar, Majda;
Vouk, Katja;
Komel, Radovan

Publication type:

Article

A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa).

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU19>3.0.CO;2-#

By:

Seixas, Susana;
Trovoada, M. Jesus;
Santos, M. Teresa;
Rocha, Jorge

Publication type:

Article

Guidelines and recommendations for content, structure, and deployment of mutation databases.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 344, doi. 10.1002/(SICI)1098-1004(1999)13:5<344::AID-HUMU2>3.0.CO;2-U

By:

Scriver, C.R.;
Nowacki, P.M.;
Lehväslaiho, H.

Publication type:

Article

Molecular genetic study of Pompe disease in Chinese patients in Taiwan.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 380, doi. 10.1002/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A

By:

Ko, Tsang-Ming;
Hwu, Wuh-Liang;
Lin, Yu-Wan;
Tseng,, Li-Hui;
Hwa, Hsiao-Lin;
Wang, Tso-Ren;
Chuang, Sou-Ming

Publication type:

Article

Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 401, doi. 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N

By:

Silva, Cláudia M.D.;
Severini, Márcia H.;
Sopelsa, Andréia;
Coelho, Janice C.;
Zaha, Arnaldo;
d'Azzo, Alessandra;
Giugliani, Roberto

Publication type:

Article

A single, large deletion accounts for all the β-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU14>3.0.CO;2-H

By:

Thong, M.K.;
Rudzki, Z.;
Hall, J.;
Tan, J.A.M.A.;
Chan, L.L.;
Yap, S.F.

Publication type:

Article

Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU18>3.0.CO;2-2

By:

Linnebank, M.;
Rapp, B.;
Homberger, A.;
Winter, C.;
Marquardt, T.;
Künzel, U.;
Koch, H.G.

Publication type:

Article

5<sup>th</sup> International HUGO Mutation Database Meeting, 27<sup>th</sup> October, 1998, Denver, U.S.A.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 343, doi. 10.1002/(SICI)1098-1004(1999)13:5<343::AID-HUMU1>3.0.CO;2-Y

By:

Horaitis, Ourania;
Cotton, Richard G.H.

Publication type:

Article

Two novel mutations of the FMO3 gene in a proband with trimethylaminuria.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 376, doi. 10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A

By:

Akerman, B.R.;
Forrest, S.;
Chow, L.;
Youil, R.;
Knight, M.;
Treacy, E.P.

Publication type:

Article

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1

By:

Fujita, Tsuyoshi;
Ohtani-Fujita, Naoko;
Sakai, Toshiyuki;
Rapaport, Joyce M.;
Dryja, Thaddeus P.;
Kato, Mitsuo V.;
Ishizaki, Kanji;
Sasaki, Masao S.;
Hotta, Yoshihiro;
Maeda, Koshi;
Kinoshita, Shigeru;
Ohnishi, Yoshitaka;
Minoda, Kensei

Publication type:

Article

Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A>T.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 415, doi. 10.1002/(SICI)1098-1004(1999)13:5<415::AID-HUMU20>3.0.CO;2-M

By:

Osawa, Motoki;
Henke, Lotte;
Umetsu, Kazuo;
Henke, Jürgen

Publication type:

Article

Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N

By:

Sherratt, Emma J.;
Thomas, Andrew W.;
Gagg, James W.;
Majid, Aneela;
Alcolado, John C.

Publication type:

Article

Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU17>3.0.CO;2-5

By:

Ko, Tsang-Ming;
Liang, Zhi-Cheng;
Lin, Yu-Wan;
Hwu, Wuh-Liang

Publication type:

Article

Cystathionine β-synthase mutations in homocystinuria.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 362, doi. 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K

By:

Kraus, Jan P.;
Janošík, Miroslav;
Kožich, Viktor;
Mandell, Roseann;
Shih, Vivian;
Sperandeo, M.P.;
Sebastio, Gianfranco;
de Franchis, Raffaella;
Andria, Generoso;
Kluijtmans, Leo A.J.;
Blom, Henk;
Boers, Godfried H.J.;
Gordon, Ross B.;
Kamoun, Pierre;
Tsai, Michael Y.;
Kruger, Warren D.;
Koch, Hans G.;
Ohura, Toshihiro;
Gaustadnes, Mette

Publication type:

Article

Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 390, doi. 10.1002/(SICI)1098-1004(1999)13:5<390::AID-HUMU8>3.0.CO;2-1

By:

Feriotto, Giordana;
Lucci, Marco;
Bianchi, Nicoletta;
Mischiati, Carlo;
Gambari, Roberto

Publication type:

Article

Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 412, doi. 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU12>3.0.CO;2-Q

By:

Marino, Giuseppina;
Travali, Salvatore;
Reyes, Tony;
Wallace, Bruce R.;
Caldarella, Rosalia;
Travali, Simone;
Emmanuele, Giovanni;
Stivala, Franca;
Barbagallo, Carlo M.;
Cantafora, Alfredo;
Bertolini, Stefano;
Notarbartolo, Alberto;
Averna, Maurizio

Publication type:

Article

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 414, doi. 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU16>3.0.CO;2-8

By:

Gathungu, Grace;
Kim, Hung Jeff;
Morell, Robert J.

Publication type:

Article

Congenital hyperinsulinism: Molecular basis of a heterogeneous disease.

Published in:

Human Mutation, 1999, v. 13, n. 5, p. 351, doi. 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R

By:

Meissner, Thomas;
Beinbrech, Beatrice;
Mayatepek, Ertan

Publication type:

Article