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Volume 4; Issue 1
Main
Human Mutation
Volume 4; Issue 1
Human Mutation
Volume 4; Issue 1
1
Masthead
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1994
2
Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
Roland G. Roberts
,
Rebecca J. Gardner
,
Martin Bobrow
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 1.13 MB
Your tags:
english, 1994
3
Two coding change mutations in the HIS22 allele characterize the salivary histatin 3-2 protein variant
Linda M. Sabatini
,
Edwin A. Azen
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 757 KB
Your tags:
english, 1994
4
Scanning method to establish the molecular basis of protein C deficiencies
S. Gandrille
,
M. Goossens
,
M. Aiach
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 961 KB
Your tags:
english, 1994
5
(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations
Robin J. Olds
,
David A. Lane
,
Vijoy Chowdhury
,
Geza Sas
,
Ingrid Pabinger
,
Karin Auberger
,
Swee Lay Thein
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 943 KB
Your tags:
english, 1994
6
Detecting prion protein gene mutations by denaturing gradient gel electrophoresis
John K. Fink
,
Michael L. Peacock
,
James T. Warren Jr.
,
Allen D. Roses
,
Stanley B. Prusiner
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 844 KB
Your tags:
english, 1994
7
High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis
François Rousseau
,
Richard Réhel
,
Patricia Rouillard
,
Pierre DeGranpré
,
Edward W. Khandjian
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 416 KB
Your tags:
english, 1994
8
Nonisotopic detection of mutations using a modified single-strand conformation polymorphism analysis
J. Weidner
,
A. Eigel
,
J. Horst
,
W. Köhnlein
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 192 KB
Your tags:
english, 1994
9
Seven new mutations in the human ornithine transcarbamylase gene
Mendel Tuchman
,
Robert J. Plante
,
Mark T. McCann
,
Amber A. Qureshi
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 344 KB
Your tags:
english, 1994
10
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis
Alessandra Ferlini
,
Maria Cristina Patrosso
,
Monica Repetto
,
Annalisa Frattini
,
Anna Villa
,
Sergio Fini
,
Fabrizio Salvi
,
Paolo Vezzoni
,
Antonino Forabosco
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 323 KB
Your tags:
english, 1994
11
A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction
Thilo Dörk
,
Katrin Will
,
Klaus Grade
,
Michael Krawczak
,
Burkhard Tümmler
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 550 KB
Your tags:
english, 1994
12
Three novel β-hexosaminidase a mutations in obligate carriers of Tay-Sachs disease
Jerzy Tomczak
,
Eugene E. Grebner
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 190 KB
Your tags:
english, 1994
13
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
Seiichi Tsujino
,
Laurence A. Rubin
,
Sara Shanske
,
Salvatore DiMauro
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 233 KB
Your tags:
english, 1994
14
Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency
Pauline H. Yen
,
Giovanni B. Ferrero
,
A. Craig Chinault
,
Thuluvancheri Mohandas
,
Andrea Ballabio
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 207 KB
Your tags:
english, 1994
15
North Eurasian origin of the myotonic dystrophy mutation
Giuseppe Novelli
,
Gabriella Spedini
,
Giovanni Destro-Bisol
,
Massimo Gennarelli
,
Cristina Fattorini
,
Bruno Dallapiccola
Journal:
Human Mutation
Year:
1994
Language:
english
File:
PDF, 204 KB
Your tags:
english, 1994
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