Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 4

Results: 18

A suggested nomenclature for designating mutations.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 245, doi. 10.1002/humu.1380020402

By:

Beaudet, Arthur L.;
Tsui, Lap-Chee

Publication type:

Article

A novel nonsense mutation in the human dystrophin gene.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 314, doi. 10.1002/humu.1380020413

By:

Saad, F. A.;
Vita, G.;
Mora, M.;
Morandi, L.;
Vitiello, L.;
Oliviero, S.;
Danieli, G. A.

Publication type:

Article

Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 268, doi. 10.1002/humu.1380020406

By:

Hermans, Monique M. P.;
Kroos, Marian A.;
De Graaff, Esther;
Oostra, Ben A.;
Reuser, Arnold J. J.

Publication type:

Article

A new δ-chain variant hemoglobin A2-puglia or α2δ2 26 Glu→Asp (B8), detected by DNA analysis in a family of Southern Italian origin.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 327, doi. 10.1002/humu.1380020417

By:

Loudianos, Georgios;
Porcu, Susanna;
Cossu, Patrizia;
Tannoia, Nunzia;
Vitucci, Angelantonio;
Campanale, Daniela;
Cao, Antonio;
Pirastu, Mario

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1993, v. 2, n. 4, p. fmi, doi. 10.1002/humu.1380020401
Publication type:: Article

Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 309, doi. 10.1002/humu.1380020412

By:

Nørby, Søren

Publication type:

Article

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 261, doi. 10.1002/humu.1380020405

By:

Harvey, John S.;
Nelson, Paul V.;
Carey, William F.;
Robertson, Evelyn F.;
Morris, C. Phillip

Publication type:

Article

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 324, doi. 10.1002/humu.1380020416

By:

Millar, D. S.;
Lopez, A.;
White, D.;
Abraham, G.;
Laursen, B.;
Holding, S.;
Reverter, J. C.;
Reynaud, J.;
Martinowitz, U.;
Hayes, J. P. L. A.;
Kakkar, V. V.;
Cooper, D. N.

Publication type:

Article

Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 293, doi. 10.1002/humu.1380020409

By:

Roberts, Roland G.;
Bentley, David R.;
Bobrow, Martin

Publication type:

Article

Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 306, doi. 10.1002/humu.1380020411

By:

Bienvenu, T.;
Bousquet, S.;
Herbulot, C.;
Cartault, F.;
Kaplan, J.-C.;
Beldjord, C.

Publication type:

Article

A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 256, doi. 10.1002/humu.1380020404

By:

Mandelshtam, Michail Ju.;
Lipovetskyi, Boris M.;
Schwartzman, Alexandr L.;
Gaitskhoki, Vladimir S.

Publication type:

Article

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 320, doi. 10.1002/humu.1380020415

By:

Hirschhorn, R.;
Chen, A. S.;
Israni, A.;
Yang, D. R.;
Huie, M. L.

Publication type:

Article

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 286, doi. 10.1002/humu.1380020408

By:

Ravnik-Glavač, Metka;
Glavač, Damjan;
Komel, Radovan;
Dean, Michael

Publication type:

Article

A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 300, doi. 10.1002/humu.1380020410

By:

Pepe, Guglielmina

Publication type:

Article

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 249, doi. 10.1002/humu.1380020403

By:

Al-Maghtheh, Mai;
Gregory, Cheryl;
Inglehearn, Chris;
Hardcastle, Alison;
Bhattacharya, Shomi

Publication type:

Article

Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 317, doi. 10.1002/humu.1380020414

By:

Levran, Orna;
Desnick, Robert J.;
Schuchman, Edward H.

Publication type:

Article

Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE).

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 274, doi. 10.1002/humu.1380020407

By:

Smith-Sørensen, Birgitte;
Gebhardt, Mark C.;
Kloen, Peter;
McIntyre, Jim;
Aguilar, Fernando;
Cerutti, Peter;
Børresen, Anne-Lise

Publication type:

Article

No C1840 to T mutation in RYR1 in malignant hyperthermia.

Published in:

Human Mutation, 1993, v. 2, n. 4, p. 330, doi. 10.1002/humu.1380020418

By:

Hall-Curran, Julie L.;
Stewart, Alistair D.;
Ball, Sarah P.;
Halsall, Jane P.;
Hopkins, Philip M.;
Ellis, F. Richard

Publication type:

Article

Works matching IS 10597794 AND DT 1993 AND VI 2 AND IP 4

A suggested nomenclature for designating mutations.

A novel nonsense mutation in the human dystrophin gene.

Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II.

A new δ-chain variant hemoglobin A<sub>2</sub>-puglia or α<sub>2</sub>δ<sub>2</sub> 26 Glu→Asp (B8), detected by DNA analysis in a family of Southern Italian origin.

Masthead.

Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification.

An arylsulfatase A (ARSA) missense mutation (T<sub>274</sub>M) causing late-infantile metachromatic leukodystrophy.

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis.

Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts.

Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.

A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations.

A highly polymorphic (ACT)<sub>n</sub> VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE).

No C1840 to T mutation in RYR1 in malignant hyperthermia.