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Volume 23; Issue 2
Main
Human Mutation
Volume 23; Issue 2
Human Mutation
Volume 23; Issue 2
1
Y-chromosomal microsatellite mutation rates: Differences in mutation rate between and within loci
B. Myhre Dupuy
,
M. Stenersen
,
T. Egeland
,
B. Olaisen
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 144 KB
Your tags:
english, 2004
2
Novel TP53 gene mutations in tumors of Russian patients with breast cancer detected using a new solid phase chemical cleavage of mismatch method and identified by sequencing
A. Lambrinakos
,
M. Yakubovskaya
,
J.J. Babon
,
A.A. Neschastnova
,
Ya.V. Vishnevskaya
,
G.A. Belitsky
,
G. D'Cunha
,
O. Horaitis
,
R.G.H. Cotton
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 281 KB
Your tags:
english, 2004
3
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
Lan Kluwe
,
Reiner Siebert
,
Stefan Gesk
,
Reinhard E. Friedrich
,
Sigrid Tinschert
,
Hildegard Kehrer-Sawatzki
,
Victor-F. Mautner
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 253 KB
Your tags:
english, 2004
4
The pedigree tool: Web-based visualization of a family tree
Peter Lachmund
,
Istvan-Tibor Nebel
,
Dagmar Führer
,
Ralf Paschke
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 137 KB
Your tags:
english, 2004
5
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF
C. Houdayer
,
M. Gauthier-Villars
,
A. Laugé
,
S. Pagès-Berhouet
,
C. Dehainault
,
V. Caux-Moncoutier
,
P. Karczynski
,
M. Tosi
,
F. Doz
,
L. Desjardins
,
J. Couturier
,
D. Stoppa-Lyonnet
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 228 KB
Your tags:
english, 2004
6
Mitochondrial DNA-like sequences in the nucleus (NUMTs): Insights into our African origins and the mechanism of foreign DNA integration
Dan Mishmar
,
Eduardo Ruiz-Pesini
,
Martin Brandon
,
Douglas C. Wallace
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 186 KB
Your tags:
english, 2004
7
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
Meena Upadhyaya
,
Song Han
,
Claudia Consoli
,
Elisa Majounie
,
Martin Horan
,
Nick S. Thomas
,
Christopher Potts
,
Sian Griffiths
,
Martino Ruggieri
,
Andreas von Deimling
,
David N. Cooper
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 307 KB
Your tags:
english, 2004
8
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
Leonarda Ianzano
,
Edwin J. Young
,
Xiao C. Zhao
,
Elayne M. Chan
,
M. T. Rodriguez
,
Maria V. Torrado
,
Stephen W. Scherer
,
Berge A. Minassian
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 329 KB
Your tags:
english, 2004
9
Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)
Jin Yan
,
Jinong Feng
,
Carolyn H. Buzin
,
William Scaringe
,
Qiang Liu
,
Jerry R. Mendell
,
Johan den Dunnen
,
Steve S. Sommer
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2004
10
Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
Sergio Ruiz-Llorente
,
Jerónimo Bravo
,
Arancha Cebrián
,
Alberto Cascón
,
Marina Pollan
,
Dolores Tellería
,
Rocío Letón
,
Miguel Urioste
,
Raquel Rodríguez-López
,
Jose M. de Campos
,
María J. Muñoz
,
Carmen L
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 244 KB
Your tags:
english, 2004
11
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
Mitsuhiro Kato
,
Soma Das
,
Kristin Petras
,
Kunio Kitamura
,
Ken-ichirou Morohashi
,
Diane N. Abuelo
,
Mason Barr
,
Dominique Bonneau
,
Angela F. Brady
,
Nancy J. Carpenter
,
Karen L. Cipero
,
Francesco Frisone
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 636 KB
Your tags:
english, 2004
12
Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
Uta Rundshagen
,
Christine Zühlke
,
Sven Opitz
,
Eberhard Schwinger
,
Barbara Käsmann-Kellner
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2004
13
Context of deletions and insertions in human coding sequences
Alexey S. Kondrashov
,
Igor B. Rogozin
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2004
14
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis
C. Le Maréchal
,
J. M. Chen
,
C. Le Gall
,
G. Plessis
,
J. Chipponi
,
N. A. Chuzhanova
,
O. Raguénès
,
C. Férec
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 62 KB
Your tags:
english, 2004
15
Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families
Mani T. Valarmathi
,
Meenakshi Sawhney
,
Suryanarayana S. V. Deo
,
Nootan K. Shukla
,
Satya N. Das
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 97 KB
Your tags:
english, 2004
16
The molecular basis of cystathionine ß-synthase (CBS) deficiency in UK and US patients with homocystinuria
Stuart J. Moat
,
Liming Bao
,
Brian Fowler
,
James R. Bonham
,
John H. Walter
,
Jan P. Kraus
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2004
17
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation
Yin-Hsiu Chien
,
Shu-Chuan Chiang
,
Aichu Huang
,
Shi-Ping Chou
,
Szu-San Tseng
,
Yuan-Te Huang
,
Wuh-Liang Hwu
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 37 KB
Your tags:
english, 2004
18
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants
Nagla M.A. Gasmelseed
,
Martin Schmidt
,
Mubarak M.A. Magzoub
,
Muthure Macharia
,
Osman M. Elmustafa
,
Benson Ototo
,
Enno Winkler
,
Gerd Ruge
,
Rolf D. Horstmann
,
Christian G. Meyer
Journal:
Human Mutation
Year:
2004
Language:
english
File:
PDF, 36 KB
Your tags:
english, 2004
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