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BMJ Journals
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Journal of Medical Genetics
Special collections
JMG Online mutation reports
Email alerts
JMG Online mutation reports
Novel
TBX5
mutations and molecular mechanism for Holt-Oram syndrome
C
Fan
,
M A
Duhagon
,
C
Oberti
,
S
Chen
,
Y
Hiroi
,
I
Komuro
,
P I
Duhagon
,
R
Canessa
,
Q
Wang
Journal of Medical Genetics
Mar 2003,
40
(3)
e29;
DOI:
10.1136/jmg.40.3.e29
Frequent genomic disorganisation of
MLH1
in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples
I
Sumitsuji
,
K
Sugano
,
T
Matsui
,
N
Fukayama
,
K
Yamaguchi
,
T
Akasu
,
S
Fujita
,
Y
Moriya
,
R
Yokoyama
,
S
Nomura
,
T
Yoshida
,
T
Kodama
,
M
Ogawa
Journal of Medical Genetics
Mar 2003,
40
(3)
e30;
DOI:
10.1136/jmg.40.3.e30
A second heterozygous
MDR3
nonsense mutation associated with intrahepatic cholestasis of pregnancy
C
Gendrot
,
Y
Bacq
,
M-C
Brechot
,
J
Lansac
,
C
Andres
Journal of Medical Genetics
Mar 2003,
40
(3)
e32;
DOI:
10.1136/jmg.40.3.e32
Large deletion causing the
TSC2
-
PKD1
contiguous gene syndrome without infantile polycystic disease
Y M
Smulders
,
B H J
Eussen
,
S
Verhoef
,
C H
Wouters
Journal of Medical Genetics
Feb 2003,
40
(2)
e17;
DOI:
10.1136/jmg.40.2.e17
The severe form of type I hyperprolinaemia results from homozygous inactivation of the
PRODH
gene
H
Jacquet
,
J
Berthelot
,
C
Bonnemains
,
G
Simard
,
P
Saugier-Veber
,
G
Raux
,
D
Campion
,
D
Bonneau
,
T
Frebourg
Journal of Medical Genetics
Jan 2003,
40
(1)
e7;
DOI:
10.1136/jmg.40.1.e7
Mutations in
USH2A
in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation
S
Bernal
,
C
Ayuso
,
G
Antiñolo
,
A
Gimenez
,
S
Borrego
,
M J
Trujillo
,
I
Marcos
,
M
Calaf
,
E
Del Rio
,
M
Baiget
Journal of Medical Genetics
Jan 2003,
40
(1)
e8;
DOI:
10.1136/jmg.40.1.e8
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
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
N
Vandenberghe
,
M
Upadhyaya
,
A
Gatignol
,
L
Boutrand
,
M
Boucherat
,
G
Chazot
,
A
Vandenberghe
,
P
Latour
Journal of Medical Genetics
Dec 2002,
39
(12)
e81;
DOI:
10.1136/jmg.39.12.e81
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA
Ser(UCN)
gene
F J
del Castillo
,
M
Villamar
,
M A
Moreno-Pelayo
,
J J
Almela
,
C
Morera
,
I
Adiego
,
F
Moreno
,
I
del Castillo
Journal of Medical Genetics
Dec 2002,
39
(12)
e82;
DOI:
10.1136/jmg.39.12.e82
Correlation between a specific Wilms tumour suppressor gene (
WT1
) mutation and the histological findings in Wilms tumour (WT)
R
Shibata
,
A
Hashiguchi
,
J
Sakamoto
,
T
Yamada
,
A
Umezawa
,
J
Hata
Journal of Medical Genetics
Dec 2002,
39
(12)
e83;
DOI:
10.1136/jmg.39.12.e83
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