Works matching IS 10597794 AND DT 1997 AND VI 10 AND IP 4

Results: 10

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L

By:

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

Publication type:

Article

Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 310, doi. 10.1002/(SICI)1098-1004(1997)10:4<310::AID-HUMU7>3.0.CO;2-K

By:

Ariga, Tadashi;
Yamada, Masafumi;
Ito, Sukeyuki;
Iwamura, Mika;
Iseki, Mikiro;
Sakiyama, Yukio

Publication type:

Article

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 268, doi. 10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D

By:

Wenger, David A.;
Rafi, Mohammad A.;
Luzi, Paola

Publication type:

Article

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/ RDS gene.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 301, doi. 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J

By:

Felbor, Ute;
Schilling, Harald;
Weber, Bernhard H. F.

Publication type:

Article

Registries of immunodeficiency patients and mutations.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 261, doi. 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K

By:

Lappalainen, Ilkka;
Ollila, Juha;
Smith, C. I. Edvard;
Vihinen, Mauno

Publication type:

Article

Tay-Sachs disease and HEXA mutations among Moroccan Jews.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G

By:

Kaufman, Michal;
Grinshpun-Cohen, Julia;
Karpati, Mazal;
Peleg, Lea;
Goldman, Boleslaw;
Akstein, Edna;
Adam, Avinoam;
Navon, Ruth

Publication type:

Article

Quantitative enriched PCR (QEPCR), a highly sensitive method for detection of K- ras oncogene mutation.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 322, doi. 10.1002/(SICI)1098-1004(1997)10:4<322::AID-HUMU9>3.0.CO;2-I

By:

Ronai, Ze'ev;
Minamoto, Toshinari

Publication type:

Article

Evidence for founder effect of the glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 290, doi. 10.1002/(SICI)1098-1004(1997)10:4<290::AID-HUMU4>3.0.CO;2-L

By:

Arya, Roopen;
Lalloz, Michel R. A.;
Bellingham, Alastair J.;
Layton, D. Mark

Publication type:

Article

Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 317, doi. 10.1002/(SICI)1098-1004(1997)10:4<317::AID-HUMU8>3.0.CO;2-D

By:

McDaniel, Lisa D.;
Legerski, Randy;
Lehmann, Alan R.;
Friedberg, Errol C.;
Schultz, Roger A.

Publication type:

Article

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Published in:

Human Mutation, 1997, v. 10, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(1997)10:4<326::AID-HUMU10>3.0.CO;2-1

By:

Watanabe, Yoriko;
Yano, Shoji;
Koga, Yasutoshi;
Yukizane, Shigenori;
Nishiyori, Atsushi;
Yoshino, Makoto;
Kato, Hirohisa;
Ogata, Tsutomu;
Adachi, Masanori

Publication type:

Article