Volume 2; Issue 4

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Human Mutation
Volume 2; Issue 4

Human Mutation

Volume 2; Issue 4

1

Masthead

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 97 KB

english, 1993

2

A suggested nomenclature for designating mutations

Arthur L. Beaudet, Lap-Chee Tsui

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 332 KB

english, 1993

3

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 605 KB

english, 1993

4

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 451 KB

english, 1993

5

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 580 KB

english, 1993

6

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 503 KB

english, 1993

7

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 1.06 MB

english, 1993

8

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 668 KB

english, 1993

9

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 612 KB

english, 1993

10

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

Guglielmina Pepe

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 515 KB

english, 1993

11

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 206 KB

english, 1993

12

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 470 KB

english, 1993

13

A novel nonsense mutation in the human dystrophin gene

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 250 KB

english, 1993

14

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 297 KB

english, 1993

15

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 310 KB

english, 1993

16

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 298 KB

english, 1993

17

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

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 227 KB

english, 1993

18

No C1840 to T mutation in RYR1 in malignant hyperthermia

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 76 KB

english, 1993