Homocystinuria due to cystathionine Ξ²-synthase (CBS) deficiency is an inherited disorder of homocysteine transsulfuration, which manifests by neurological, vascular and connective tissue involvement. So far, 130 pathogenic mutations have been recognized in the CBS gene. We examined 10 independent al
β¦ LIBER β¦
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome
β Scribed by Y Yu; C Xu; X Pan; H Ren; W Wang; X Meng; F Huang; N Chen
- Book ID
- 110888903
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 694 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Identification and functional analysis o
β
Marek OrendÑè; Ewa Pronicka; Jolanta Kubalska; Miroslav Janosik; Jitka SokolovÑ;
π
Article
π
2004
π
John Wiley and Sons
π
English
β 290 KB
π 1 views
A novel mutation of the WRN gene in a Ch
β
N. Zhao; F. Hao; T. Qu; Y.-G. Zuo; B-X. Wang
π
Article
π
2008
π
John Wiley and Sons
π
English
β 393 KB
Identification of two novel mutations in
β
YAO-HUA KE; JIN-WEI HE; WEN-ZHEN FU; ZHEN-LIN ZHANG
π
Article
π
2011
π
John Wiley and Sons
π
English
β 719 KB
Identification and functional analysis o
β
Sook-Jin Lee; Dong Hwan Lee; Han-Wook Yoo; Soo Kyung Koo; Eun-Sook Park; Joo-Won
π
Article
π
2005
π
Nature Publishing Group
π
English
β 268 KB
Identification of novel mutations in the
β
JP Delaunoy; A Dubos; P Marques Pereira; A Hanauer
π
Article
π
2006
π
John Wiley and Sons
π
English
β 129 KB
Identification of novel mutations in pat
β
Elena Nicolis; Alberto Bonizzato; Baroukh M. Assael; Marco Cipolli
π
Article
π
2005
π
John Wiley and Sons
π
English
β 87 KB
π 2 views
## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m