The arylsulfatase A gene of a Japanese patient who has the juvenile form of metachromatic leukodystrophy, and who has been previously reported as a heterozygote of the 1070A mutation, was investigated. Nucleotide sequence analysis revealed the presence of a previously unreported C-to-T substitution
✦ LIBER ✦
Retarded and Aberrant Splicings Caused by Single Exon Mutation in a Phosphoglycerate Kinase Variant
✍ Scribed by Tomomi Ookawara; Vibha Davé; Patrick Willems; Jean-Jacques Martin; Thierry de Barsy; Ervé Matthys; Akira Yoshida
- Book ID
- 115565929
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 139 KB
- Volume
- 327
- Category
- Article
- ISSN
- 0003-9861
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Single exon mutation in arylsulfatase A
✍
Yoriyasu Hasegawa; Hiroshi Kawame; Hiroyuki Ida; Toya Ohashi; Yoshikatsu Eto
📂
Article
📅
1994
🏛
Springer
🌐
English
⚖ 955 KB
Missense and nonsense mutations in the a
✍
Audrey McAlinden; Marja Majava; Paul N. Bishop; Rahat Perveen; Graeme CM. Black;
📂
Article
📅
2008
🏛
John Wiley and Sons
🌐
English
⚖ 316 KB
Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long
A deep intronic mutation in FGB creates
✍
Ryan L. Davis; Vivienne M. Homer; Peter M. George; Stephen O. Brennan
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 275 KB
Activation of cryptic splice sites is a
✍
Simone Schimpf; Simone Schaich; Bernd Wissinger
📂
Article
📅
2005
🏛
Springer
🌐
English
⚖ 352 KB
Hypoparathyroidism-retardation-dysmorphi
✍
Winnie Courtens; Wim Wuyts; Martin Poot; Karoly Szuhai; Jan Wauters; Edwin Reyni
📂
Article
📅
2006
🏛
John Wiley and Sons
🌐
English
⚖ 155 KB
👁 2 views
Enhanced exon 2 skipping caused by c.910
✍
Yumi Tone; Tomoko Toma; Akiko Toga; Yasuhisa Sakakibara; Taizo Wada; Masahiro Ya
📂
Article
📅
2011
🏛
Springer
🌐
English
⚖ 423 KB