Works matching IS 10597794 AND DT 1994 AND VI 3 AND IP 2

Results: 14

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 156, doi. 10.1002/humu.1380030211

By:

Aguilar-Martinez, Patricia;
Romey, Marie-Catherine;
Gris, Jean-Christophe;
Schved, Jean-François;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 103, doi. 10.1002/humu.1380030204

By:

Eng, Christine M.;
Desnick, Robert J.

Publication type:

Article

Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 133, doi. 10.1002/humu.1380030208

By:

Wilton, Stephen D.;
Chandler, David C.;
Kakulas, Byron A.;
Laing, Nigel G.

Publication type:

Article

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1α subunit.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 152, doi. 10.1002/humu.1380030210

By:

Dahl, H. -H. M.;
Brown, G. K.

Publication type:

Article

Genetic basis of inherited peripheral neuropathies.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 95, doi. 10.1002/humu.1380030203

By:

Suter, Ueli;
Patel, Pragna I.

Publication type:

Article

Does cancer kill the individual and save the species?

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 166, doi. 10.1002/humu.1380030214

By:

Sommer, Steve S.

Publication type:

Article

Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: Application to the detection of point mutations in acute leukemias.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 126, doi. 10.1002/humu.1380030207

By:

Pignon, J. M.;
Vinatier, I.;
Fanen, P.;
Jonveaux, P.;
Tournilhac, O.;
Imbert, M.;
Rochant, H.;
Goossens, M.

Publication type:

Article

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 83, doi. 10.1002/humu.1380030202

By:

Fodde, Riccardo;
Losekoot, Monique

Publication type:

Article

Sequence of the -530 region of the β-globin gene of sickle cell anemia patients with the Arabian haplotype.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 163, doi. 10.1002/humu.1380030213

By:

Zeng, Fan-yi;
Rodgers, Griffin P.;
Huang, Shu-zhen;
Schechter, Alan N.;
Salamah, Mohammad;
Perrine, Susan;
Berg, Patricia E.

Publication type:

Article

Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 121, doi. 10.1002/humu.1380030206

By:

Bisgaard, Marie Luise;
Fenger, Kirsten;
Bülow, Steffen;
Niebuhr, Erik;
Mohr, Jan

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1994, v. 3, n. 2, p. fmi, doi. 10.1002/humu.1380030201
Publication type:: Article

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 159, doi. 10.1002/humu.1380030212

By:

Hayward, Caroline;
Porteous, Mary E. M.;
Brock, David J. H.

Publication type:

Article

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile G<sub>M1</sub>-gangliosidosis.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 112, doi. 10.1002/humu.1380030205

By:

Morrone, Amelia;
Morreau, Hans;
Zhou, Xiao Yan;
Zammarchi, Enrico;
Kleijer, Wim J.;
Galjaard, Hans;
d'Azzo, Alessandra

Publication type:

Article

Identification of rare and novel mutations in the CFTR genes of CF patients in Southern England.

Published in:

Human Mutation, 1994, v. 3, n. 2, p. 141, doi. 10.1002/humu.1380030209

By:

Shackleton, Sue;
Hull, Jeremy;
Dear, Simon;
Seller, Anneke;
Thomson, Anne;
Harris, Ann

Publication type:

Article