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Volume 22; Issue 5
Main
Human Mutation
Volume 22; Issue 5
Human Mutation
Volume 22; Issue 5
1
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
Antonio Pizzuti
,
Anna Sarkozy
,
Anthea L. Newton
,
Emanuela Conti
,
Elisabetta Flex
,
Maria Cristina Digilio
,
Francesca Amati
,
Debora Gianni
,
Caterina Tandoi
,
Bruno Marino
,
Merlin Crossley
,
Bruno Dallapic
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2003
2
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
K. Jaakson
,
J. Zernant
,
M. Külm
,
A. Hutchinson
,
N. Tonisson
,
D. Glavač
,
M. Ravnik-Glavač
,
M. Hawlina
,
M.R. Meltzer
,
R.C. Caruso
,
F. Testa
,
A. Maugeri
,
C.B. Hoyng
,
P. Gouras
,
F. Simonelli
,
R.A. Lewis
,
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 221 KB
Your tags:
english, 2003
3
Molecular pathology of NEU1 gene in sialidosis
Volkan Seyrantepe
,
Helena Poupetova
,
Roseline Froissart
,
Marie-Thérèse Zabot
,
Irène Maire
,
Alexey V. Pshezhetsky
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 402 KB
Your tags:
english, 2003
4
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe
R. Rademakers
,
B. Dermaut
,
K. Peeters
,
M. Cruts
,
P. Heutink
,
A. Goate
,
C. Van Broeckhoven
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 97 KB
Your tags:
english, 2003
5
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
Naohiro Kurotaki
,
Naoki Harada
,
Osamu Shimokawa
,
Noriko Miyake
,
Hiroshi Kawame
,
Kimiaki Uetake
,
Yoshio Makita
,
Tatsuro Kondoh
,
Tsutomu Ogata
,
Tomoko Hasegawa
,
Toshiro Nagai
,
Takao Ozaki
,
Mayumi Touyam
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2003
6
High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography
Kai-feng Pan
,
Wanguo Liu
,
You-Yong Lu
,
Lian Zhang
,
Zhen-pu Li
,
Wan-Li Lu
,
Stephen N. Thibodeau
,
Wei-Cheng You
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 235 KB
Your tags:
english, 2003
7
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes
Raquel M. Fernández
,
Guillermo Antiñolo
,
Charis Eng
,
Salud Borrego
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2003
8
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg
Andreas Weinhaeusel
,
Michael A. Morris
,
Stylianos E. Antonarakis
,
Oskar A. Haas
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 181 KB
Your tags:
english, 2003
9
Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
Anna L. Gloyn
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2003
10
The molecular basis of glutamate formiminotransferase deficiency
John F. Hilton
,
Karen E. Christensen
,
David Watkins
,
Benjamin A. Raby
,
Yannick Renaud
,
Susanna de la Luna
,
Xavier Estivill
,
Robert E. MacKenzie
,
Thomas J. Hudson
,
David S. Rosenblatt
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 58 KB
Your tags:
english, 2003
11
Genetic variation in a haplotype block spanning IDE influences Alzheimer disease
Jonathan A. Prince
,
Lars Feuk
,
Harvest F. Gu
,
Boo Johansson
,
Margaret Gatz
,
Kaj Blennow
,
Anthony J. Brookes
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 186 KB
Your tags:
english, 2003
12
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)
K.L. Thomson
,
A.L. Gloyn
,
K. Colclough
,
M. Batten
,
L.I.S. Allen
,
F. Beards
,
A.T. Hattersley
,
S. Ellard
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2003
13
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease
Marco Henneke
,
Nadine Flaschker
,
Christoph Helbling
,
Martina Müller
,
Peter Schadewaldt
,
Jutta Gärtner
,
Udo Wendel
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2003
14
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
J.I. Martínez-Ferrandis
,
A. Vega
,
I. Chirivella
,
P. Marín-García
,
A. Insa
,
A. Lluch
,
A. Carracedo
,
F.J. Chaves
,
J. García-Conde
,
A. Cervantes
,
M.-E. Armengod
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2003
15
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)
Franziska Krämer
,
Nicole Mohr
,
Ulrich Kellner
,
Günther Rudolph
,
Bernhard H.F. Weber
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2003
16
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)
Barry Eng
,
Lisa N. Nakamura
,
Natasha O'Reilly
,
Natasha Schokman
,
Magorzata M.J. Nowaczyk
,
William Krivit
,
John S. Waye
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 27 KB
Your tags:
english, 2003
17
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth
Beth K. Thielen
,
David F. Barker
,
Raoul D. Nelson
,
Jing Zhou
,
Stefan M. Kren
,
Yoav Segal
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 199 KB
Your tags:
english, 2003
18
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families
G. Isidro
,
S. Matos
,
V. Gonçalves
,
C. Cavaleiro
,
O. Antunes
,
C. Marinho
,
J. Soares
,
M.G. Boavida
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 31 KB
Your tags:
english, 2003
19
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors
Lan Kluwe
,
Reinhard E. Friedrich
,
Matthias Peiper
,
Jan Friedman
,
Victor-F. Mautner
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2003
20
BUB1 infrequently mutated in human breast carcinomas
Anita Langerød
,
Maria Strømberg
,
Koei Chin
,
Vessela N. Kristensen
,
Anne-Lise Børresen-Dale
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 25 KB
Your tags:
english, 2003
21
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic
Vibeke Westphal
,
Ming Xiao
,
Pui-Yan Kwok
,
Hudson H. Freeze
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2003
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