✦ LIBER ✦

The T911C (F304S) substitution in the humanALG6gene is a common polymorphism and not a causal mutation of CDG-Ic

✍ Scribed by Sandrine Vuillaumier-Barrot; Christiane Le Bizec; Geneviève Durand; Nathalie Seta

Book ID: 106252662
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 37 KB
Volume: 46
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380170038

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A619→G substitution in the HEXB gene is

A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism

✍ Isabelle Redonnet-Vernhet; Martine Chatelut; Louis Buscail; Don J. Mahuran; Robe 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

A gene from the human determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250. sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.

LETTERS TO THE EDITOR: An additional Glu

LETTERS TO THE EDITOR: An additional Glu30Lys substitution in the Gla domain of the protein Z gene is not a common polymorphism but a rare mutation, which would cause its deficiency

✍ H. IWATA; M. SOURI; B. KEMKES-MATTHES; A. ICHINOSE 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB

The Asp620asn mutation in VPS35 is not a

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

✍ Ilaria Guella; Giulia Soldà; Roberto Cilia; Gianni Pezzoli; Rosanna Asselta; Ste 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 79 KB 👁 1 views

A common functional C-T substitution pol

A common functional C-T substitution polymorphism in the promoter region of the human catalase gene influences transcription factor binding, reporter gene transcription and is correlated to blood catalase levels

✍ Lena Forsberg; Louise Lyrenäs; Ralf Morgenstern; Ulf de Faire 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 242 KB

The Val81missense mutation of the melano

The Val81missense mutation of the melanocortin 3 receptor gene, but not the 1908C/T nucleotide polymorphism in lamin A/C gene, is associated with hyperleptinemia and hyperinsulinemia in obese Greek Caucasians

✍ Yiannakouris, N.; Melistas, L.; Kontogianni, M.; Heist, K.; Mantzoros, C. S. 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 95 KB

Single polymorphism nucleotide rs1333049

Single polymorphism nucleotide rs1333049 on chromosome 9p21 is associated with carotid plaques but not with common carotid intima-media thickness in older adults. A combined analysis of the Three-City and the EVA studies

✍ Matthieu Plichart; Jean-Philippe Empana; Jean-Charles Lambert; Philippe Amouyel; 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 168 KB