✦ LIBER ✦

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome

✍ Scribed by Yoriko Watanabe; Shoji Yano; Yasutoshi Koga; Shigenori Yukizane; Atsushi Nishiyori; Makoto Yoshino; Hirohisa Kato; Tsutomu Ogata; Masanori Adachi

Book ID: 101264533
Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 72 KB
Volume: 10
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.0.co;2-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

P1148A in fibrillin-1 is not a mutation

P1148A in fibrillin-1 is not a mutation anymore

✍ Wang, Mei; Mathews, Kurt R.; Imaizumi, Kiyoshi; Beiraghi, Soraya; Blumberg, Bruc 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 306 KB

Mutation in fibrillin-1 and the Marfanoi

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

✍ Sood, Sumesh; Eldadah, Zayz A.; Krause, Wilma L.; Mclntosh, Iain; Dietz, Harry C 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 291 KB

A p.D116G mutation in CREB1 leads to nov

A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse

✍ Sohei Kitazawa; Takeshi Kondo; Kiyoshi Mori; Naoki Yokoyama; Masafumi Matsuo; Ri 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB

We evaluated an autopsy case with severe neonatal respiratory distress, hypoplasia of thymus, thyroid gland and cerebellum, and agenesis of the corpus callosum displaying striking phenotypic similarity to the CrebA knockout mouse. On the assumption that comparable genetic alterations must be present

A new mutation (intron 9 +1 G>T) in the

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

✍ Coto, Eliecer; Rodriguez, Julian; Jeck, Nikola; Alvarez, Victoria; Stone, Rosari 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 115 KB