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Volume 21; Issue 6
Main
Human Mutation
Volume 21; Issue 6
Human Mutation
Volume 21; Issue 6
1
Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide
Toshiyuki Fukao
,
Naoki Matsuo
,
Gai Xiu Zhang
,
Rintaro Urasawa
,
Tetsuo Kubo
,
Yoshinori Kohno
,
Naomi Kondo
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 184 KB
Your tags:
english, 2003
2
Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency
Johannes Häberle
,
Hans Georg Koch
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 59 KB
Your tags:
english, 2003
3
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations
Ute Spiekerkoetter
,
Bin Sun
,
Zaza Khuchua
,
Michael J. Bennett
,
Arnold W. Strauss
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 241 KB
Your tags:
english, 2003
4
Human Gene Mutation Database (HGMD®): 2003 update
Peter D. Stenson
,
Edward V. Ball
,
Matthew Mort
,
Andrew D. Phillips
,
Jacqueline A. Shiel
,
Nick S.T. Thomas
,
Shaun Abeysinghe
,
Michael Krawczak
,
David N. Cooper
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2003
5
Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms
Paula J. Bray
,
Richard G.H. Cotton
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2003
6
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
Sylvie Tuffery-Giraud
,
Céline Saquet
,
Sylvie Chambert
,
Mireille Claustres
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 6.17 MB
Your tags:
english, 2003
7
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
Alessia Colosimo
,
Valentina Guida
,
Luciana Rigoli
,
Chiara Di Bella
,
Alessandro De Luca
,
Silvana Briuglia
,
Liborio Stuppia
,
Damiano Carmelo Salpietro
,
Bruno Dallapiccola
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 214 KB
Your tags:
english, 2003
8
Mutation analysis in patients with N-acetylglutamate synthase deficiency
Johannes Häberle
,
Eva Schmidt
,
Silke Pauli
,
Joachim Gerhard Kreuder
,
Barbara Plecko
,
Axel Galler
,
Benedicht Wermuth
,
Erik Harms
,
Hans Georg Koch
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2003
9
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
Lieve Claes
,
Berten Ceulemans
,
Dominique Audenaert
,
Katrien Smets
,
Ann Löfgren
,
Jurgen Del-Favero
,
Sirpa Ala-Mello
,
Lina Basel-Vanagaite
,
Barbara Plecko
,
Salmo Raskin
,
Paul Thiry
,
Nicole I. Wolf
,
Chri
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 141 KB
Your tags:
english, 2003
10
An ABCA4 genomic deletion in patients with Stargardt disease
Alexander N. Yatsenko
,
Noah F. Shroyer
,
Richard A. Lewis
,
James R. Lupski
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 243 KB
Your tags:
english, 2003
11
A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity
P. Jagiello
,
C. Hammans
,
S. Wieczorek
,
L. Arning
,
A. Stefanski
,
H. Strehl
,
J.T. Epplen
,
M. Gencik
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2003
12
A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7
Mathew W. Moore
,
Lisa G. Dietz
,
Budi Tirtorahardjo
,
Philip D. Cotter
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 118 KB
Your tags:
english, 2003
13
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
Jochen Reiss
,
Jean L. Johnson
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 284 KB
Your tags:
english, 2003
14
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
Paule Bénit
,
Réjane Beugnot
,
Dominique Chretien
,
Irina Giurgea
,
Pascale De Lonlay-Debeney
,
Jean-Paul Issartel
,
Marisol Corral-Debrinski
,
Stefan Kerscher
,
Pierre Rustin
,
Agnès Rötig
,
Arnold Munnich
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2003
15
Incorrect headers and abstracts in Human Mutation, Volume 21, Issue 1, January 2003
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 47 KB
Your tags:
english, 2003
16
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein
Kristin Becker
,
Stephanie A. Robb
,
Zandra Hatton
,
Shu Ching Yau
,
Stephen Abbs
,
Roland G. Roberts
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 150 KB
Your tags:
english, 2003
17
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
Eric Schulze-Bahr
,
Lars Eckardt
,
Günter Breithardt
,
Karlheinz Seidl
,
Thomas Wichter
,
Christian Wolpert
,
Martin Borggrefe
,
Wilhelm Haverkamp
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2003
18
Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations
Masahiro Sasaki
,
Yuichiro Tanaka
,
Masanori Kaneuchi
,
Noriaki Sakuragi
,
Rajvir Dahiya
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2003
19
Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients
Lyoung Hyo Kim
,
Hyoung Doo Shin
,
Byung Lae Park
,
Ji Hyun Jung
,
Jun Yeun Kim
,
Yoon Jun Kim
,
Hyo-Suk Lee
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2003
20
Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population
Mayumi Saeki
,
Yoshiro Saito
,
Takahiro Nakamura
,
Norie Murayama
,
Su-Ryang Kim
,
Shogo Ozawa
,
Kazuo Komamura
,
Kazuyuki Ueno
,
Shiro Kamakura
,
Toshiharu Nakajima
,
Hirohisa Saito
,
Yutaka Kitamura
,
Naoyuki K
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 61 KB
Your tags:
english, 2003
21
Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family
Sophie Gad
,
Ivan Bièche
,
Michel Barrois
,
Federica Casilli
,
Sabine Pages-Berhouet
,
Catherine Dehainault
,
Marion Gauthier-Villars
,
Aaron Bensimon
,
Alain Aurias
,
Rosette Lidereau
,
Brigitte Bressac-de Pai
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2003
22
A Novel PTPN11 mutation in LEOPARD syndrome
E. Conti
,
T. Dottorini
,
A. Sarkozy
,
G. E. Tiller
,
G. Esposito
,
A. Pizzuti
,
B. Dallapiccola
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2003
23
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population
Maria Concetta Fargnoli
,
Sergio Chimenti
,
Gisela Keller
,
Heinz Höfler
,
Ketty Peris
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2003
24
The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations
Marina De Rosa
,
Maria I. Scarano
,
Luigi Panariello
,
Gemma Morelli
,
Gabriele Riegler
,
Giovanni B. Rossi
,
Alfonso Tempesta
,
Giovanni Romano
,
Andrea Renda
,
Guido Pettinato
,
Paola Izzo
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 43 KB
Your tags:
english, 2003
25
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
Olivier Baris
,
Cécile Delettre
,
Patrizia Amati-Bonneau
,
Marie-Odile Surget
,
Jean-François Charlin
,
Antoine Catier
,
Laurence Derieux
,
Jean-Laurent Guyomard
,
Hélène Dollfus
,
Philippe Jonveaux
,
Carmen Ay
Journal:
Human Mutation
Year:
2003
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2003
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