Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 4

Results: 23

Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colon.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 351, doi. 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU13>3.0.CO;2-M

By:

Kim, Jin C.;
Roh, Seon A.;
Kim, Hee C.;
Yu, Chang S.;
Lee, Dong H.;
Ahn, Byung Y.;
Kim, Kyung M.;
Yang, Suk K.;
Kang, Gyeong H.;
Beck, Nicholas E.;
Bodmer, Walter F.

Publication type:

Article

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N

By:

Ugarte, Magdalena;
Pérez-Cerdá, Celia;
Rodríguez-Pombo, Pilar;
Desviat, Lourdes R.;
Pérez, Belén;
Richard, Eva;
Muro, Silvia;
Campeau, Eric;
Ohura, Toshihiro;
Gravel, Roy A.

Publication type:

Article

A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4

By:

Bellone, Emilia;
Di Maria, Emilio;
Soriani, Silvia;
Varese, Alessandra;
Doria, Laura Lamba;
Ajmar, Franco;
Mandich, Paola

Publication type:

Article

A study of Wilson disease mutations in Britain.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 304, doi. 10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W

By:

Curtis, Diana;
Durkie, Miranda;
Balac (Morris), Pauline;
Sheard, Donna;
Goodeve, Anne;
Peake, Ian;
Quarrell, Oliver;
Tanner, Stuart

Publication type:

Article

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(199910)14:4<333::AID-HUMU9>3.0.CO;2-C

By:

Arnold, Norbert;
Gross, Eva;
Schwarz-Boeger, Ulrike;
Pfisterer, Jacobus;
Jonat, Walter;
Kiechle, Marion

Publication type:

Article

A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 351, doi. 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU12>3.0.CO;2-P

By:

Heikkinen, Jari;
Pousi, Birgitta;
Pope, Michael;
Myllylä, Raili

Publication type:

Article

New missense mutation in exon 13 (N789T) of the coagulation factor V gene.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU23>3.0.CO;2-3

By:

Kostka, H.;
Siegert, G.;
Gehrisch, S.;
Kuhlisch, E.;
Runge, E.;
Jaross, W.

Publication type:

Article

A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7

By:

Melo, Karla F.S.;
Latronico, Ana Claudia;
Costa, Elaine M.F.;
Billerbeck, Ana Elisa C.;
Mendonca, Berenice B.;
Arnhold, Ivo J.P.

Publication type:

Article

Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9

By:

Loudianos, Georgios;
Dessi, Valeria;
Lovicu, Mario;
Angius, Andrea;
Figus, Annalena;
Lilliu, Franco;
De Virgiliis, Stefano;
Nurchi, Anna Maria;
Deplano, Angelo;
Moi, Paolo;
Pirastu, Mario;
Cao, Antonio

Publication type:

Article

An online locus-specific mutation database for familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F

By:

Fung, David C.Y.;
Yu, Bing;
Littlejohn, Tim;
Trent, Ronald J.

Publication type:

Article

The ΔF508 mutation in Ecuador, South America.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8

By:

Paz-y-Miño, César;
Pérez, J. Christian;
Burgos, Ramiro;
Dávalos, Ma. Verónica;
Leone, Paola E.

Publication type:

Article

Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU22>3.0.CO;2-6

By:

Widhalm, Kurt;
Iro, Christa;
Lindemayr, Annabell;
Schmidt, Helena;
Kostner, Gert

Publication type:

Article

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 352, doi. 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D

By:

Climent, Consuelo;
García-Pérez, Miguel Ángel;
Sanjurjo, Pablo;
Ruiz-Sanz, José-Ignacio;
Vilaseca, María Antònia;
Pineda, Mercè;
Campistol, Jaume;
Rubio, Vicente

Publication type:

Article

Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylation.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 289, doi. 10.1002/(SICI)1098-1004(199910)14:4<289::AID-HUMU3>3.0.CO;2-A

By:

Bianco, Tina;
Hussey, Damian;
Dobrovic, Alexander

Publication type:

Article

Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU19>3.0.CO;2-T

By:

De Siervi, Adriana;
Mendez, Manuel;
Parera, Victoria Estela;
Varela, Laura;
Batlle, Alcira M. del C.;
Rossetti, Maria Victoria

Publication type:

Article

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 320, doi. 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O

By:

Buj-Bello, Anna;
Biancalana, Valérie;
Moutou, Céline;
Laporte, Jocelyn;
Mandel, Jean-Louis

Publication type:

Article

Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: Sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE).

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(199910)14:4<340::AID-HUMU10>3.0.CO;2-Z

By:

Holloway, John W.;
Beghé, Bianca;
Turner, Steve;
Hinks, Lesley J.;
Day, Ian N.M.;
Howell, W. Martin

Publication type:

Article

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9

By:

Kušic, Jelena;
Radojkovic, Dragica;
Cuppens, Harry;
Jaspers, Martine;
Tomic, Jelena;
Savic, Ana

Publication type:

Article

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 352, doi. 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU14>3.0.CO;2-G

By:

Ainoon, O.;
Joyce, J.;
Boo, N.Y.;
Cheong, S.K.;
Zainal, Z.A.;
Hamidah, N.H.

Publication type:

Article

RB1 gene mutations in retinoblastoma.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 283, doi. 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J

By:

Lohmann, Dietmar R.

Publication type:

Article

Analysis of DNA elements that modulate myosin VIIA expression in humans.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z

By:

Orten, D.J.;
Weston, M.D.;
Kelley, P.M.;
Cremers, C.W.;
Wagenaar, M.;
Jacobson, S.G.;
Kimberling, W.J.

Publication type:

Article

Threading analysis of the Pitx2 homeodomain: Predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 312, doi. 10.1002/(SICI)1098-1004(199910)14:4<312::AID-HUMU6>3.0.CO;2-S

By:

Banerjee-Basu, Sharmila;
Baxevanis, Andreas D.

Publication type:

Article

Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.

Published in:

Human Mutation, 1999, v. 14, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I

By:

Cardoso, M. Luís;
Martins, Esmeralda;
Vasconcelos, Rui;
Vilarinho, Laura;
Rocha, Jorge

Publication type:

Article