Volume 1; Issue 5

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Human Mutation
Volume 1; Issue 5

Human Mutation

Volume 1; Issue 5

1

Masthead

Journal:

Year:

1992

Language:

english

File:

PDF, 85 KB

english, 1992

2

Illegitimate transcription: Its use in the study of inherited disease

Jean-Claude Kaplan, Axel Kahn, Jamel Chelly

Journal:

Year:

1992

Language:

english

File:

PDF, 388 KB

english, 1992

3

Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease

Elina Ikonen, Leena Peltonen

Journal:

Year:

1992

Language:

english

File:

PDF, 466 KB

english, 1992

4

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

Harry C. Dietz, Jorge M. Saraiva, Reed E. Pyeritz, Garry R. Cutting, Clair A. Francomano

Journal:

Year:

1992

Language:

english

File:

PDF, 852 KB

english, 1992

5

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

V. Nunes, T. Casals, A. Gaona, G. Antiñolo, J. Ferrer-Calvete, J. Pérez-Frias, E. Tardío, J. Molano, X. Estivill

Journal:

Year:

1992

Language:

english

File:

PDF, 437 KB

english, 1992

6

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Theresa V. Strong, Lisa S. Smit, Samya Nasr, Deborah L. Wood, Jeffrey L. Cole, Michael C. Iannuzzi, Robert C. Stern, Francis S. Collins

Journal:

Year:

1992

Language:

english

File:

PDF, 659 KB

english, 1992

7

A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene

Hans Geir Eiken, Per M. Knappskog, Jaran Apold, Leif Skjelkvåle, Helge Boman

Journal:

Year:

1992

Language:

english

File:

PDF, 314 KB

english, 1992

8

CRIM-positive mutations of acute intermittent porphyria in Finland

R. Kauppinen, L. Peltonen, H. Pihlaja, P. Mustajoki

Journal:

Year:

1992

Language:

english

File:

PDF, 448 KB

english, 1992

9

An N-acetylgalactosamine-4-sulfatase mutation (ΔG238) results in a severe Maroteaux-Lamy phenotype

Tom Litjens, C. Phillip Morris, Evelyn F. Robertson, Christoph Peters, Kurt von Figura, John J. Hopwood

Journal:

Year:

1992

Language:

english

File:

PDF, 496 KB

english, 1992

10

Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA

Charlene J. Williams, David A. Harrison, Ian Hopkinson, Clinton T. Baldwin, N. Nina Ahmad, Leena Ala-Kokko, Richard M. Korn, Paul G. Buxton, Jeffrey Dimascio, Eileen L. Considine, Darwin J. Prockop

Journal:

Year:

1992

Language:

english

File:

PDF, 1.10 MB

english, 1992

11

A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction

Klara R. Birikh, Oleg V. Plutalov, Eugene I. Schwartz, P. Sundari Devi, Yuri A. Berlin

Journal:

Year:

1992

Language:

english

File:

PDF, 276 KB

english, 1992

12

A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene

L. Saba, A. Meloni, R. Sardu, M. Travi, P. Primignani, M. C. Rosatelli, A. Cao

Journal:

Year:

1992

Language:

english

File:

PDF, 196 KB

english, 1992

13

Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

Guo-Shun He, Marie E. Grace, Gregory A. Grabowski

Journal:

Year:

1992

Language:

english

File:

PDF, 418 KB

english, 1992

14

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

José Manuel Soria, Jordi Fontcuberta, Montserrat Borrell, Xavier Estivill, Núria Sala

Journal:

Year:

1992

Language:

english

File:

PDF, 337 KB

english, 1992

15

Identification of a new splicing mutation (406-1 G-C) in the CFTR gene

A. Bonizzato, E. Nicolis, P. Gasparini

Journal:

Year:

1992

Language:

english

File:

PDF, 154 KB

english, 1992

16

Gene duplication in evolution

Robert C. Baumiller, Xiuyuan Hu, Ronald G. Worton

Journal:

Year:

1992

Language:

english

File:

PDF, 81 KB

english, 1992

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