Congenital abnormalities in Japanese patients with Menkes disease

2012 ◽  
Vol 34 (9) ◽  
pp. 746-749 ◽  
Author(s):  
Yan-Hong Gu ◽  
Hiroko Kodama ◽  
Tadaaki Kato
Keyword(s):  
Congenital Abnormalities ◽  
Menkes Disease ◽  
Japanese Patients

ATP 7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis

2019 ◽  
Vol 61 (4) ◽  
pp. 345-350 ◽  
Author(s):  
Chie Fujisawa ◽  
Hiroko Kodama ◽  
Tomoko Hiroki ◽  
Yoshikiyo Akasaka ◽  
Makoto Hamanoue
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Gene Analysis ◽  
Carrier Detection

scholarly journals Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease

1999 ◽  
Vol 44 (3) ◽  
pp. 206-209 ◽  
Author(s):  
A. Ogawa ◽  
Shigenori Yamamoto ◽  
Masaki Takayanagi ◽  
Toshiaki Kogo ◽  
Masaki Kanazawa ◽  
...  
Keyword(s):  
Menkes Disease ◽  
Japanese Patients ◽  
Novel Mutations ◽  
Mnk Gene

Efficacy of budesonide TurbuhalerR compared with that of beclomethasone dipropionate pMDI in Japanese patients with moderately persistent asthma

Respirology ◽  
2001 ◽  
Vol 6 (1) ◽  
pp. 27-35 ◽  
Author(s):  
Terumasa Miyamoto ◽  
Terumi Takahashi ◽  
Shigenori Nakajima ◽  
Sohei Makino ◽  
Michio Yamakido ◽  
...  
Keyword(s):  
Beclomethasone Dipropionate ◽  
Persistent Asthma ◽  
Japanese Patients

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Renal ultrasound screening for renal congenital abnormalities at newborns, in Arad maternity

2008 ◽  
Vol 29 (S 1) ◽  
Author(s):  
D Burdan ◽  
D Teodorescu ◽  
A Marta ◽  
M Satmarean ◽  
E Gomoi ◽  
...  
Keyword(s):  
Congenital Abnormalities ◽  
Renal Ultrasound ◽  
Ultrasound Screening
Sign in / Sign up

Export Citation Format

Share Document