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Journal of Medical Genetics
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JMG Online mutation reports
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JMG Online mutation reports
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from
GDAP1
nonsense and splicing mutations
A
De Sandre-Giovannoli
,
M
Chaouch
,
I
Boccaccio
,
R
Bernard
,
V
Delague
,
D
Grid
,
J M
Vallat
,
N
Lévy
,
A
Mégarbané
Journal of Medical Genetics
Jul 2003,
40
(7)
e87;
DOI:
10.1136/jmg.40.7.e87
New
PPARG
mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand
Angelika
Lüdtke
,
Janine
Buettner
,
Hartmut H-J
Schmidt
,
Howard J
Worman
Journal of Medical Genetics
Sep 2007,
44
(9)
e88;
DOI:
10.1136/jmg.2007.050567
A germline mutation in
KIT
in familial diffuse cutaneous mastocytosis
X
Tang
,
M
Boxer
,
A
Drummond
,
P
Ogston
,
M
Hodgins
,
A D
Burden
Journal of Medical Genetics
Jun 2004,
41
(6)
e88;
DOI:
10.1136/jmg.2003.015156
Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers
A S
Ramalho
,
S
Beck
,
D
Penque
,
T
Gonska
,
H H
Seydewitz
,
M
Mall
,
M D
Amaral
Journal of Medical Genetics
Jul 2003,
40
(7)
e88;
DOI:
10.1136/jmg.40.7.e88
The T/G−13915 variant upstream of the lactase gene (
LCT
) is the founder allele of lactase persistence in an urban Saudi population
F
Imtiaz
,
E
Savilahti
,
A
Sarnesto
,
D
Trabzuni
,
K
Al-Kahtani
,
I
Kagevi
,
M S
Rashed
,
B F
Meyer
,
I
Järvelä
Journal of Medical Genetics
Oct 2007,
44
(10)
e89;
DOI:
10.1136/jmg.2007.051631
Germline mutations of the
E-cadherin(CDH1)
and
TP53
genes, rather than of
RUNX3
and
HPP1
, contribute to genetic predisposition in German gastric cancer patients
G
Keller
,
H
Vogelsang
,
I
Becker
,
S
Plaschke
,
K
Ott
,
G
Suriano
,
A R
Mateus
,
R
Seruca
,
K
Biedermann
,
D
Huntsman
,
C
Döring
,
E
Holinski-Feder
,
A
Neutzling
,
J R
Siewert
,
H
Höfler
Journal of Medical Genetics
Jun 2004,
41
(6)
e89;
DOI:
10.1136/jmg.2003.015594
Study of the involvement of the
RGR
,
CRPB1
, and
CRB1
genes in the pathogenesis of autosomal recessive retinitis pigmentosa
S
Bernal
,
M
Calaf
,
M
Garcia-Hoyos
,
B
Garcia-Sandoval
,
J
Rosell
,
A
Adan
,
C
Ayuso
,
M
Baiget
Journal of Medical Genetics
Jul 2003,
40
(7)
e89;
DOI:
10.1136/jmg.40.7.e89
CYP1B1
gene analysis in primary congenital glaucoma in Indonesian and European patients
R
Sitorus
,
S M
Ardjo
,
B
Lorenz
,
M
Preising
Journal of Medical Genetics
Jan 2003,
40
(1)
e9;
DOI:
10.1136/jmg.40.1.e9
A novel
COCH
mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss
I
Nagy
,
M
Horváth
,
M
Trexler
,
G
Répássy
,
L
Patthy
Journal of Medical Genetics
Jan 2004,
41
(1)
e9;
DOI:
10.1136/jmg.2003.012286
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a
CRX
heterozygous null allele
I
Perrault
,
S
Hanein
,
S
Gerber
,
F
Barbet
,
J-L
Dufier
,
A
Munnich
,
J-M
Rozet
,
J
Kaplan
Journal of Medical Genetics
Jul 2003,
40
(7)
e90;
DOI:
10.1136/jmg.40.7.e90
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