Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 4

Results: 16

δ-Thalassemic phenotype due to two 'novel' δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA<sub>2</sub>-pylos] and CD 85 [TTT → TCT (F1)-HbA<sub>2</sub>-etolia].

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 344, doi. 10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5

By:

Drakoulakou, Olga;
Papapanagiotou, Elisavet;
Loutradi-Anagnostou, Afrodite;
Papadakis, Manoussos

Publication type:

Article

Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 359, doi. 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1

By:

Wang, Mei;
Wang, Ji-Yi;
Cisler, Jason;
Imaizumi, Kiyoshi;
Burton, Barbara K.;
Jones, Marilyn C.;
Lamberti, John J.;
Godfrey, Maurice

Publication type:

Article

Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 370, doi. 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#

By:

Gismondi, Viviana;
Bafico, Anna;
Biticchi, Roberta;
Pedemonte, Simona;
Molina, Francesco;
Heouaine, Abdelhamid;
Sala, Paola;
Bertario, Lucio;
Presciuttini, Silvano;
Strigini, Paolo;
Groden, Joanna;
Varesco, Liliana

Publication type:

Article

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 300, doi. 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9

By:

Kuivaniemi, Helena;
Tromp, Gerard;
Prockop, Darwin J.

Publication type:

Article

Detection of mutations in multi-exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1997)9:4<339::AID-HUMU6>3.0.CO;2-0

By:

Ganguly, Arupa;
Williams, Charlene

Publication type:

Article

Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 368, doi. 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0

By:

Clavel, Christine;
Pennaforte, François;
Pigeon, Frédérique;
Verlingue, Claudine;
Birembaut, Philippe;
Férec, Claude

Publication type:

Article

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 291, doi. 10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9

By:

St-Louis, Maryse;
Tanguay, Robert M.

Publication type:

Article

Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7

By:

Highsmith, W. Edward;
Burch, Lauranell H.;
Zhou, Zhaoqing;
Olsen, John C.;
Strong, Theresa V.;
Smith, Terry;
Friedman, Kenneth J.;
Silverman, Lawrence M.;
Boucher, Richard C.;
Collins, Francis S.;
Knowles, Michael R.

Publication type:

Article

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 356, doi. 10.1002/(SICI)1098-1004(1997)9:4<356::AID-HUMU9>3.0.CO;2-3

By:

Kawamata, Jun;
Shimohama, Shun;
Takano, Shin;
Harada, Kiyoshi;
Ueda, Kunihiro;
Kimura, Jun

Publication type:

Article

Novel and recurrent mutations in the neurofibromatosis type 1 ( NF1) gene.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 366, doi. 10.1002/(SICI)1098-1004(1997)9:4<366::AID-HUMU12>3.0.CO;2-0

By:

Hudson, J;
Wu, CL;
Tassabehji, M;
Summers, EM;
Simon, S;
Super, M;
Donnai, D;
Thakker, N

Publication type:

Article

Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 378, doi. 10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-#

By:

Lund, Allan M.;
Skovby, Flemming;
Schwartz, Marianne

Publication type:

Article

Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 322, doi. 10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7

By:

Kobayashi, Takehiro;
Kuraoka, Isao;
Saijo, Masafumi;
Nakatsu, Yoshimichi;
Tanaka, Akemi;
Someda, Yukiko;
Fukuro, Shuhei;
Tanaka, Kiyoji

Publication type:

Article

Single-step DGGE-based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(1997)9:4<348::AID-HUMU8>3.0.CO;2-1

By:

Guldberg, Per;
Nedergaard, Trine;
Nielsen, Hans Jørgen;
Olsen, Anna Catharina;
Ahrenkiel, Vibeke;
Zeuthen, Jesper

Publication type:

Article

Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 363, doi. 10.1002/(SICI)1098-1004(1997)9:4<363::AID-HUMU11>3.0.CO;2-0

By:

Levo, Antii;
Partanen, Jukka

Publication type:

Article

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 374, doi. 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#

By:

Böddrich, Annett;
Robinson, Peter N.;
Schülke, Markus;
Buske, Annegret;
Tinschert, Sigrid;
Nürnberg, Peter

Publication type:

Article

Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations.

Published in:

Human Mutation, 1997, v. 9, n. 4, p. 316, doi. 10.1002/(SICI)1098-1004(1997)9:4<316::AID-HUMU3>3.0.CO;2-3

By:

Byck, Susan;
Tyfield, Linda;
Carter, Kevin;
Scriver, Charles R.

Publication type:

Article