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
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
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
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
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
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
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.

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

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

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

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

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.

No C1840 to T mutation in RYR1 in malignant hyperthermia.