books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 2; Issue 4
Main
Human Mutation
Volume 2; Issue 4
Human Mutation
Volume 2; Issue 4
1
Masthead
Journal:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1993
2
A suggested nomenclature for designating mutations
Arthur L. Beaudet
,
Lap-Chee Tsui
Journal:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 332 KB
Your tags:
english, 1993
3
Rhodopsin mutations in autosomal dominant retinitis pigmentosa
Mai Al-Maghtheh
,
Cheryl Gregory
,
Chris Inglehearn
,
Alison Hardcastle
,
Shomi Bhattacharya
Journal:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 605 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 451 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 580 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 503 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 1.06 MB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 668 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 612 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 515 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 206 KB
Your tags:
english, 1993
12
Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification
Søren Nørby
Journal:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 470 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 250 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 297 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 310 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 298 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 227 KB
Your tags:
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:
Human Mutation
Year:
1993
Language:
english
File:
PDF, 76 KB
Your tags:
english, 1993
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×