✦ LIBER ✦

Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample

✍ Scribed by Hywel J. Williams; Lyudmila Georgieva; Sarah Dwyer; George Kirov; Michael J. Owen; Michael C. O'Donovan

Book ID: 119366324
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 126 KB
Volume: 141
Category: Article
ISSN: 0920-9964
DOI: 10.1016/j.schres.2012.08.024

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo gene mutations highlight pattern

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

✍ Xu, Bin; Ionita-Laza, Iuliana; Roos, J Louw; Boone, Braden; Woodrick, Scarlet; S 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 447 KB

Pelizaeus-Merzbacher disease caused by a

Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus

✍ Pratt, Victoria M. ;Boyadjiev, Simon ;Green, Kathryn ;Hodes, M. E. ;Dlouhy, Step 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 2 views

A single in vitro point mutation in the

A single in vitro point mutation in the first non-translated exon silences transcription of the human apolipoprotein B gene in HepG2 cells

✍ Samuel S. Chuang; Hriday K. Das 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 412 KB

Absence of mutations in the prion-protei

Absence of mutations in the prion-protein gene in a large cohort of HMSN patients

✍ Olga Koop; Vincent Timmerman; Peter de Jonghe; Bernd Ringelstein; Peter Young; G 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 59 KB

Mutation analysis of the RET proto-oncog

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A

✍ Landsvater, RudyM.; Jansen, RumoP.M.; Hofstra, RobertM.W.; Buys, CharlesH.C.M.; 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 532 KB

A de novo G+1 → a mutation at the α2(I)

A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband

✍ Jane D. Filie; Bonnie M. Orrison; Qin Wang; Mary Beth Lewis; Joan C. Marini 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 839 KB

Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained