✦ LIBER ✦

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype

✍ Scribed by Y.-C. Wang; C.-F. Chang; H.-C. Lin; K.-S. Lin; K.-T. Lin; C.-M. Hung; T.-M. Lin

Book ID: 110869326
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 670 KB
Volume: 21
Category: Article
ISSN: 0958-7578
DOI: 10.1111/j.1365-3148.2010.01055.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Expression of a novel missense mutation

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype

✍ Åsa Hellberg; Anne-Christine Schmidt-Melbye; Marion E. Reid; Martin L. Olsson 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 331 KB

Mutation analysis of the pyruvate dehydr

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 598 KB

Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod

Refining the phenotype of α-1a Tubulin (

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

✍ DJ Morris-Rosendahl; J Najm; AMA Lachmeijer; L Sztriha; M Martins; A Kuechler; V 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB

Two novel functional mutations in the Na

Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

✍ M-J Castro; B Nunes; B De Vries; C Lemos; KRJ Vanmolkot; JJMW Van Den Heuvel; T 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 450 KB

Novel monogenic diabetes mutations in th

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro

✍ A. Wirsing; K. A. Johnstone; L. W. Harries; S. Ellard; G. U. Ryffel; J. Stanik; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB

Mutation screening of the LDLR gene and

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

✍ Henrik Nissen; Sophie Lestavel; Torben Stiig Hansen; Gérald Luc; Eric Bruckert; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 371 KB