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 3; Issue 5
Main
Human Molecular Genetics
Volume 3; Issue 5
Human Molecular Genetics
Volume 3; Issue 5
1
Structural analysis of α-satellite DNA and centromere proteins using extended chromatin and chromosomes
Haaf, Thomas
,
Ward, David C.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 8.41 MB
Your tags:
english, 1994
2
A gene for hereditary multiple exostoses maps to chromosome 19p
Le Merrer, Marline
,
Legeai-Mallet, Laurence
,
Jeannin, Patricia Margaritte
,
Horsthemke, Bernhard
,
Schlnzel, Albert
,
Plauchu, Henri
,
Toutaln, Annick
,
Achard, Frédéric
,
Munnich, Arnold
,
Maroteaux, Pierre
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 403 KB
Your tags:
english, 1994
3
Identification of five novel mutations in the porphobilinogen deaminase gene
S.Mgone, Charles
,
Lanyon, W.George
,
R.Moore, Michael
,
Louie, Gordon V.
,
Connor, James M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.82 MB
Your tags:
english, 1994
4
An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21
Nižetić, Dean
,
Gellen, Lisa
,
Hamvas, Renata M. J.
,
Mott, Richard
,
Grigorlev, Andrei
,
Vatcheva, Radost
,
Zehetner, Günther
,
Yaspo, Marie-Laure
,
Dutriaux, Annie
,
Lopes, Carmela
,
Delabar, Jean-M.
,
Van Bro
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 7.92 MB
Your tags:
english, 1994
5
Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21
Bessler, M.
,
Hillmen, P.
,
Longo, L.
,
Luzzatto, L.
,
Mason, P.J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.79 MB
Your tags:
english, 1994
6
Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p
Francomano, Clalr A.
,
de Luna, Rosa I. Ortiz
,
Hefferon, Timothy W.
,
Bellus, Gary A.
,
Turner, Caria E.
,
Taylor, Eugene
,
Meyers, Deborah A.
,
Blanton, Susan Halloran
,
Murray, Jeffrey C.
,
Mclntosh, lain
,
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 449 KB
Your tags:
english, 1994
7
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene
Bourn, David
,
Carter, Simon A.
,
Mason, Susan
,
Evans, D.Gareth R.
,
Strachan, Tom
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.92 MB
Your tags:
english, 1994
8
SSCP/SacI polymorphism in the PAX5 gene
Vorechovsky, I.
,
Kurzbauer, R.
,
Kozmfk, Z.
,
LHammarstrfim,
,
Smith, C.I.E.
,
Busslinger, M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 105 KB
Your tags:
english, 1994
9
Detection of a premutation in Japanese myotonic dystrophy
Yamagata, Hidehisa
,
Miki, Tetsuro
,
Sakoda, Shun-lchi
,
Yamanaka, Naoki
,
Davies, June
,
Shelbourne, Peggy
,
Kubota, Ryuji
,
Takenaga, Satoshl
,
Nakagawa, Masanori
,
Ogihara, Toshlo
,
Johnson, Keith
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.83 MB
Your tags:
english, 1994
10
Extreme evolutionary conservation of QM, a novel c-Jun associated transcription factor
Farmer, Andrew A.
,
Loftus, Thomas M.
,
Mills, Alea A.
,
Sato, Kevin Y.
,
Neill, John D.
,
Tron, Thierry
,
Yang, Meijia
,
Trumpower, Bernard L.
,
Stanbridge, Eric J.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 586 KB
Your tags:
english, 1994
11
Dinucleotide repeat polymorphism (D3S1776) on human chromosome 3p
Todd, S.
,
Naylor, S.L.
,
Drabkin, H.A.
,
Gemmil, .M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 89 KB
Your tags:
english, 1994
12
CORRIGENDUM
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 29 KB
Your tags:
english, 1994
13
BLOCK-based PCR markers to find gene family members in human and comparative genome analysis
D'Esposito, Maurizlo
,
Pilia, Giuseppe
,
Schlessinger, David
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.54 MB
Your tags:
english, 1994
14
Molecular genetics of human polymorphic N-acetyltransferase: enzymatic analysis of 15 recombinant wild-type, mutant, and chimeric NAT2 allozymes
Heln, David W.
,
Ferguson, Ronald J.
,
Doll, Mark A.
,
Rustan, Timothy D.
,
Gray, Kevin
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.94 MB
Your tags:
english, 1994
15
The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation
Rovlra, Ana
,
Vulliamy, Thomas J.
,
Pujades, Assumpció
,
Luzzatto, Lucio
,
Corrons, Joan-Luis Vives
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.83 MB
Your tags:
english, 1994
16
A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient
Choy, Francis Y.M.
,
Wei, Chao
,
Applegarth, Derek A.
,
Yong, Siu-Li
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 2.24 MB
Your tags:
english, 1994
17
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
Ravnlk-Glavač, Metka
,
Glavač, Damjan
,
Dean, Michael
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.94 MB
Your tags:
english, 1994
18
A novel deletion mutation of lactate dehydrogenase A(M) gene in the fifth family with the enzyme deficiency
Maekawa, Masato
,
Sudo, Kayoko
,
Kanno, Takashi
,
Takayasu, Susumu
,
-L.Li, Steven S.
,
Kltajima, Masato
,
Matsuura, Yukio
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.78 MB
Your tags:
english, 1994
19
Dinucleotide repeat polymorphisms near the KCNA6 and KCNAI loci
Borwne, D.L.
,
Litt, M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 101 KB
Your tags:
english, 1994
20
Characterization of a novel gene in the human major histocompatibility complex that encodes a potential new member of the I kappa B family of proteins
Albertella, Mark R.
,
Duncan Campbe, R.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.89 MB
Your tags:
english, 1994
21
Dinucleotide repeat polymorphism at the D3S666 locus
Klauck, S.M.
,
Yamakawa, K.
,
Seizinger, B.R.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 90 KB
Your tags:
english, 1994
22
Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2
G.Young, Stephen
,
Bihaln, Bernard
,
Flynn, Laura M.
,
Sanan, David A.
,
Ayrault-Jarrier, Marise
,
Jacotot, Bernard
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.76 MB
Your tags:
english, 1994
23
A 2.8 Mb YAC contig in 11q12 – q13 localizes candidate genes for atopy: FcɛRIβ and CD20
Stafford, A.N.
,
Rider, S.H.
,
Hopkin, J.M.
,
Cookson, W.O.
,
Monaco, A.P.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 1994
24
Dinucleotide repeat polymorphism at the NCAM locus
Telatar, M.
,
Concannon, P.
,
Tolun, A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 101 KB
Your tags:
english, 1994
25
Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis
Sahota, Amrik
,
Chen, Ju
,
Boyadjiev, Simeon A.
,
Gault, M.Henry
,
Tischfield, Jay A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.87 MB
Your tags:
english, 1994
26
Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint
de Leeuw, B.
,
Balemans, M.
,
Weghuis, D.Olde
,
Seruca, R.
,
Janz, M.
,
Geraghty, M.T.
,
Gilgenkrantz, S.
,
Ropers, H.H.
,
van Kessel, A.Geurts
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 3.37 MB
Your tags:
english, 1994
27
SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1)
Lench, N.J.
,
Brook, A.H.
,
Winter, G.B.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.59 MB
Your tags:
english, 1994
28
A novel nuclear protein binds centromeric alpha satellite DNA
Gaff, C.
,
du Sart, D.
,
KalltsIs, P.
,
lannello, R.
,
Nagy, A.
,
Choo, K.H.A.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 4.76 MB
Your tags:
english, 1994
29
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein
Khurana, T.S.
,
Engle, E.C.
,
Bennett, R.R.
,
Silverman, G.A.
,
Seling, S.
,
Bruns, G.A.P.
,
Kunkel, L.M.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 89 KB
Your tags:
english, 1994
30
Fourteen new polymorphic dinucleotide repeats on human chromosome 3: D3S1432, D3S1433, D3S1434, D3S1483, D3S1484, D3S1485, D3S1486, D3S1487, D3S1488, D3S1489, D3S1490, D3S1496, D3S1497 and D3S1498
Li, H.
,
LSchmidt,
,
Wei, M.-H.
,
Hustad, T.
,
Lerman, M.I.
,
Zbar, B.
,
Tory, K.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 83 KB
Your tags:
english, 1994
31
Ten base pair duplication in exon 38 of the NF1 gene
Legius, Eric
,
Hall, Bryan K.
,
Wallace, Margareth R.
,
Collins, Francis S.
,
Glover, Thomas W.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 1.82 MB
Your tags:
english, 1994
32
Dinucleotide repeat polymorphism at the D3S1255 locus
Klauck, S.M.
,
Whisenant, E.
,
Wood, M.
,
Drabkin, H.A.
,
Seizinger, B.R.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 90 KB
Your tags:
english, 1994
33
New human DNA polymorphisms submitted to the genome data base
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 381 KB
Your tags:
english, 1994
34
Tetranucleotide repeat polymorphism at the D8S640 locus
Lu, J.
,
Riley, R.
,
Fillmore, K.
,
Ward, K.
Journal:
Human Molecular Genetics
Year:
1994
Language:
english
File:
PDF, 105 KB
Your tags:
english, 1994
35
Author index
Journal:
Human Molecular Genetics
Year:
1994
File:
PDF, 51 KB
Your tags:
1994
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
×
×