Works matching IS 10597794 AND DT 1996 AND VI 7 AND IP 3

Results: 19

Announcement.

Published in:: Human Mutation, 1996, v. 7, n. 3, p. 282, doi. 10.1002/humu.1380070302
Publication type:: Article

Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 244, doi. 10.1002/(SICI)1098-1004(1996)7:3<244::AID-HUMU9>3.0.CO;2-A

By:

Cronin, Maureen T.;
Fucini, Raymond V.;
Kim, Soo Mee;
Masino, Richard S.;
Wespi, Rita M.;
Miyada, C. Garrett

Publication type:

Article

Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 214, doi. 10.1002/(SICI)1098-1004(1996)7:3<214::AID-HUMU5>3.0.CO;2-A

By:

Kim, Jong-Won;
Liou, Benjamin B.;
Lai, Ming-Yang;
Ponce, Elvira;
Grabowski, Gregory A.

Publication type:

Article

Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 202, doi. 10.1002/(SICI)1098-1004(1996)7:3<202::AID-HUMU4>3.0.CO;2-C

By:

De Vries, Ellen M.G.;
Ricke, Darrell O.;
De Vries, Thomas N.;
Hartmann, Arndt;
Blaszyk, Hagen;
Liao, Dongzhou;
Soussi, Thierry;
Kovach, John S.;
Sommer, Steve S.

Publication type:

Article

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 198, doi. 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7

By:

Capon, Francesca;
Levato, Chiarina;
Bussaglia, Elena;
Cicero, Stefania Lo;
Tizzano, Eduardo F.;
Baiget, Monserrat;
Silani, Vincenzo;
Pizzuti, Antonio;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 228, doi. 10.1002/(SICI)1098-1004(1996)7:3<228::AID-HUMU7>3.0.CO;2-6

By:

Eiken, Hans Geir;
Knappskog, Per M.;
Apold, Jaran;
Flatmark, Torgeir

Publication type:

Article

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 266, doi. 10.1002/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0

By:

Birot, A.M.;
Delobel, B.;
Gronnier, P.;
Bonnet, V.;
Maire, I.;
Bozon, D.

Publication type:

Article

Sensitive and fast mutation detection by solid phase chemical cleavage.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1996)7:3<256::AID-HUMU10>3.0.CO;2-1

By:

Hansen, Lise Lotte;
Justesen, Just;
Kruse, Torben A.

Publication type:

Article

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 279, doi. 10.1002/(SICI)1098-1004(1996)7:3<279::AID-HUMU16>3.0.CO;2-#

By:

Demmer, Laurie A.;
Kim, Jean M.;
de Martinville, Berengere;
Dowton, S. Bruce

Publication type:

Article

Fumarylacetoacetase mutations in tyrosinaemia type I.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5

By:

Rootwelt, Helge;
Høie, Kari;
Berger, Ruud;
Kvittingen, Eli Anne

Publication type:

Article

Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 264, doi. 10.1002/(SICI)1098-1004(1996)7:3<264::AID-HUMU11>3.0.CO;2-0

By:

Lo Ten Foe, Jerome R.;
Rooimans, Martin A.;
Joenje, Hans;
Arwert, Fré

Publication type:

Article

Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 275, doi. 10.1002/(SICI)1098-1004(1996)7:3<275::AID-HUMU15>3.0.CO;2-#

By:

Sasaki, Shin;
Horii, Akira;
Shimada, Mamoru;
Han, Hye-Jung;
Yanagisawa, Akio;
Muto, Tetsuichiro;
Nakamura, Yusuke

Publication type:

Article

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 272, doi. 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#

By:

Cormand, Bru;
Vilageliu, Lluïsa;
Balcells, Susana;
Gonzàlez-Duarte, Roser;
Chabás, Amparo;
Grinberg, Daniel

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 7, n. 3, p. fmi, doi. 10.1002/humu.1380070301
Publication type:: Article

Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 193, doi. 10.1002/(SICI)1098-1004(1996)7:3<193::AID-HUMU2>3.0.CO;2-C

By:

Hart, Leen M. 't;
Jansen, Janna J.;
Lemkes, Herman H.P.J.;
de Knijff, Peter;
Maassen, J. Antonie

Publication type:

Article

Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 219, doi. 10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5

By:

Nicholls, Alan C.;
Oliver, Jane;
McCarron, Seamus;
Winter, Gerald B.;
Pope, F. Michael

Publication type:

Article

Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 280, doi. 10.1002/(SICI)1098-1004(1996)7:3<280::AID-HUMU17>3.0.CO;2-Z

By:

Palmer, Mark S.;
van Leeven, Ronald H.;
Mahal, Sukhvir P.;
Campbell, Tracy A.;
Humphreys, Christine B.;
Collinge, John

Publication type:

Article

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 187, doi. 10.1002/(SICI)1098-1004(1996)7:3<187::AID-HUMU1>3.0.CO;2-8

By:

Xu, Weiming;
Astrin, Kenneth H.;
Desnick, Robert J.

Publication type:

Article

Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 269, doi. 10.1002/(SICI)1098-1004(1996)7:3<269::AID-HUMU13>3.0.CO;2-0

By:

Jensen, H.K.;
Jensen, L.G.;
Hansen, P.S.;
Færgeman, O.;
Gregersen, N.

Publication type:

Article