✦ LIBER ✦

Novel types of mutation in thechoroideremia(CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

✍ Scribed by José A. J. M. van den Hurk; Dorien J. R. van de Pol; Bernd Wissinger; Marc A. van Driel; Lies H. Hoefsloot; Ilse J. de Wijs; L. Ingeborgh van den Born; John R. Heckenlively; Han G. Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P. M. Cremers

Publisher: Springer
Year: 2003
Tongue: English
Weight: 779 KB
Volume: 113
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-003-0970-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Activation of cryptic splice sites is a

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of theOPA1gene

✍ Simone Schimpf; Simone Schaich; Bernd Wissinger 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 352 KB

Two novel mutations in exons 19a and 20

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

✍ Anja Klose; Peter Nicholas Robinson; Andreas Gewies; Lan Kluwe; Dieter Kaufmann; 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 135 KB

Identification of a novel large F9 gene

Identification of a novel large F9 gene mutation—An insertion of an Alu repeated DNA element in exon e of the factor 9 gene

✍ K. Wulff; H. Gazda; W. Schröder; R. Robicka-Milewska; F.H. Herrmann 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

Two novel mutant alleles of the gene enc

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15

✍ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam