Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal recessive disorder (MIM# 201910) due to mutations in the 21-hydroxylase (CYP21) gene (GDB Accession # M12792). Using our protocol for single strand conformational polymorphism (SSCP) analysis, we have identified tw
✦ LIBER ✦
Identification of Mutations by RNA Conformational Polymorphism “Bar Code” Analysis
✍ Scribed by HEINZ-JOSEF LENZ; KATHLEEN D. DANENBERG; BARBARA SCHNIEDERS; DEBABRATA BANERJEE; JOSEPH R. BERTINO; LAWRENCE LEICHMAN; PETER V. DANENBERG
- Book ID
- 115612553
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 80 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0888-7543
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Identification of CYP21 mutations, one n
✍
Selma F. Witchel; Rhonda Smith; Makiko Suda-Hartman
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 88 KB
👁 2 views
Identification of mycobacteria by nonrad
✍
Yutaka Tokue; Kokichi Sugano; Takeshi Noda; Daizo Saito; Yukio Shimosato; Hisana
📂
Article
📅
1995
🏛
Elsevier Science
🌐
English
⚖ 683 KB
Mutational analysis of the MCC gene by s
✍
K.J. Cripps; L.J. Curtis; A.H. Wyllie
📂
Article
📅
1995
🏛
Elsevier Science
🌐
English
⚖ 242 KB
Fluorescence-based single-strand conform
✍
Tanja Walz; Jürgen Geisel; Marion Bodis; Jean-Pierre Knapp; Wolfgang Herrmann
📂
Article
📅
2000
🏛
John Wiley and Sons
🌐
English
⚖ 97 KB
👁 2 views
Identification by single-strand conforma
✍
Sylvie Quaranta; Dany Chevalier; Véronique Bourgarel-Rey; Delphine Allorge; Caro
📂
Article
📅
2006
🏛
Elsevier Science
🌐
English
⚖ 173 KB
Rapid identification of mutations in the
✍
Hiroshi Kawame; Yoriyasu Hasegawa; Yoshikatsu Eto; Kihei Maekawa
📂
Article
📅
1992
🏛
Springer
🌐
English
⚖ 440 KB
To detect mutations in the glucocerebrosidase gene in Gaucher disease patients, we used the recently described technique of single-strand conformation polymorphism (SSCP) analysis in combination with selective amplification. We analyzed exon 8, 9, 10 and 11 of the glucocerebrosidase gene; these exon