✦ LIBER ✦

A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

✍ Scribed by Coto, Eliecer; Rodriguez, Julian; Jeck, Nikola; Alvarez, Victoria; Stone, Rosario; Loris, Cesar; Rodriguez, Luis M.; Fischbach, Michel; Seyberth, Hannsjorg W.; Santos, Fernando

Book ID: 109065276
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 115 KB
Volume: 65
Category: Article
ISSN: 0085-2538
DOI: 10.1111/j.1523-1755.2004.00388.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation at the invariant accept

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

✍ David H. Brown; Barbara L. Triggs-Raine; Matthew J. McGinniss; Michael M. Kaback 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 251 KB 👁 2 views

Prenatal monitoring in a family at high

Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: A new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity

✍ Hoshide, Ryuuji; Matsuura, Toshinobu; Sagara, Yusuke; Kubo, Takahiko; Shimadzu, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 562 KB

DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th