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Volume 104; Issue 6
Main
Human Genetics
Volume 104; Issue 6
Human Genetics
Volume 104; Issue 6
1
Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast
D. A. Pearce
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 344 KB
Your tags:
english, 1999
2
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies
R. Allikmets
,
Johanna M. Seddon
,
Paul S. Bernstein
,
A. Hutchinson
,
Andrew Atkinson
,
Sanjay Sharma
,
Bernard Gerrard
,
W. Li
,
Michael L. Metzker
,
Claes Wadelius
,
C. Thomas Caskey
,
Michael Dean
,
Konstanti
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 87 KB
Your tags:
english, 1999
3
NME6: a new member of thenm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3
James G. Mehus
,
Panagiotis Deloukas
,
D. O. Lambeth
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 143 KB
Your tags:
english, 1999
4
A mitochondrial cytochromebmutation but no mutations of nuclearly encoded subunits in ubiquinol cytochromecreductase (complex III) deficiency
Isabelle Valnot
,
Johanna Kassis
,
Dominique Chretien
,
Pascale de Lonlay
,
Béatrice Parfait
,
Arnold Munnich
,
Jean Kachaner
,
Pierre Rustin
,
Agnès Rötig
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 150 KB
Your tags:
english, 1999
5
Gene expression patterns in cell lines from patients with 18q– syndrome
Zhiqiang Wang
,
Jannine D. Cody
,
Robin J. Leach
,
P. O’Connell
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 366 KB
Your tags:
english, 1999
6
Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions
Miguel Soares
,
Joel Buxbaum
,
Giorgio Sirugo
,
Teresa Coelho
,
Alda Sousa
,
Daniel Kastner
,
Maria João Saraiva
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 196 KB
Your tags:
english, 1999
7
Ancestral origin of variation in the triosephosphate isomerase gene promoter
A. Humphries
,
A. Ationu
,
Michel R. A. Lalloz
,
D. M. Layton
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 147 KB
Your tags:
english, 1999
8
Association of the humanNPPSgene with ossification of the posterior longitudinal ligament of the spine (OPLL)
Isao Nakamura
,
Shiro Ikegawa
,
Akihiko Okawa
,
Shin’ya Okuda
,
Y. Koshizuka
,
Hiroshi Kawaguchi
,
Kozo Nakamura
,
Tsunemaro Koyama
,
Sumio Goto
,
Junya Toguchida
,
Mutsumi Matsushita
,
Takahiro Ochi
,
Kunio Taka
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 123 KB
Your tags:
english, 1999
9
Molecular cloning and characterization of the humanNUDCgene
Naomichi Matsumoto
,
D. H. Ledbetter
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 261 KB
Your tags:
english, 1999
10
Comparison of complementary and genomic DNA sequencing for the detection of mutations in theHMBSgene in British patients with acute intermittent porphyria: identification of 25 novel mutations
Sharon D. Whatley
,
Jackie R. Woolf
,
G. H. Elder
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 53 KB
Your tags:
english, 1999
11
Two novel mutations in a cystic fibrosis patient of Chinese origin
John A. Wagner
,
Athina Vassilakis
,
Kevin Yee
,
Mei Li
,
Gregory Hurlock
,
Mauri E. Krouse
,
Richard B. Moss
,
J. J. Wine
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 175 KB
Your tags:
english, 1999
12
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases
Miguel Angel Pujana
,
Jordi Corral
,
Mònica Gratacòs
,
Onofre Combarros
,
José Berciano
,
David Genís
,
Isabel Banchs
,
Xavier Estivill
,
Víctor Volpini
,
The Ataxia Study Group
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 185 KB
Your tags:
english, 1999
13
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene
Doroti Pirulli
,
Daniela Puzzer
,
Laura Ferri
,
Sergio Crovella
,
A. Amoroso
,
Cristina Ferrettini
,
Martino Marangella
,
Gina Mazzola
,
Fiorella Florian
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 156 KB
Your tags:
english, 1999
14
Intragenic polymorphic missense mutations in theXLRS1gene in families with juvenile X-linked retinoschisis
Miki Hiraoka
,
Michael T. Trese
,
B. S. Shastry
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 55 KB
Your tags:
english, 1999
15
Erratum: Hum Genet (1999) 104 : 241–248
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 13 KB
Your tags:
english, 1999
16
Human gene mutations
Journal:
Human Genetics
Year:
1999
File:
PDF, 11 KB
Your tags:
1999
17
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
T. Yorifuji
,
Junko Muroi
,
Ayumi Uematsu
,
Hidefumi Hiramatsu
,
Toru Momoi
Journal:
Human Genetics
Year:
1999
Language:
english
File:
PDF, 56 KB
Your tags:
english, 1999
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