scholarly journals A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

2016 ◽  
Vol 25 (3) ◽  
pp. 107-110 ◽  
Author(s):  
Shinji Higuchi ◽  
Masaki Takagi ◽  
Satoshi Shimomura ◽  
Gen Nishimura ◽  
Yukihiro Hasegawa
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Metaphyseal Chondrodysplasia

scholarly journals Dideoxyfingerprinting (ddF) Analysis of the Type X Collagen Gene (COL10A1) and Identification of a Novel Mutation (S671P) in a Kindred with Schmid Metaphyseal Chondrodysplasia

1996 ◽  
Vol 59 (2) ◽  
pp. 112-117 ◽  
Author(s):  
Constantine A. Stratakis ◽  
Zsolt Orban ◽  
A.Lee Burns ◽  
Alessandra Vottero ◽  
Constantine S. Mitsiades ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Collagen Gene ◽  
Type X Collagen ◽  
Metaphyseal Chondrodysplasia

A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

2016 ◽  
Vol 38 (2) ◽  
pp. 161-166 ◽  
Author(s):  
Vehap Topçu ◽  
Muhammed Yunus Alp ◽  
Cemile Kedici Alp ◽  
Abdullatif Bakır ◽  
Dilay Geylan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case

scholarly journals A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

2016 ◽  
Vol 25 (3) ◽  
pp. 103-106 ◽  
Author(s):  
Keiko Nagahara ◽  
Yuki Harada ◽  
Tohru Futami ◽  
Masaki Takagi ◽  
Gen Nishimura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Familial Case

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene

2015 ◽  
Vol 21 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Kazumasa Saigoh ◽  
Jun Mitsui ◽  
Makito Hirano ◽  
Mitsuaki Shioyama ◽  
Makoto Samukawa ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Novel Mutation ◽  
Familial Case

A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid

2011 ◽  
Vol 412 (13-14) ◽  
pp. 1266-1269 ◽  
Author(s):  
Yimin Zhu ◽  
Liping Li ◽  
Lijun Zhou ◽  
Haibo Mei ◽  
Ke Jin ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Metaphyseal Chondrodysplasia

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

2020 ◽  
Vol 41 (6) ◽  
pp. 625-628
Author(s):  
Grecia Yael Ortiz-Ramirez ◽  
Cristina Villanueva-Mendoza ◽  
Juan Carlos Zenteno Ruiz ◽  
Mariana Reyes ◽  
Vianney Cortés-González
Keyword(s):  
Novel Mutation ◽  
Familial Case ◽  
Female Carriers
Sign in / Sign up

Export Citation Format

Share Document