✦ LIBER ✦

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1

✍ Scribed by Haghighi, Amirreza; Razzaghy-Azar, Maryam; Talea, Ali; Sadeghian, Mahnaz; Ellard, Sian; Haghighi, Alireza

Book ID: 122099626
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 548 KB
Volume: 55
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.07.011

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations of the BSCL2 and AGPAT2

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome

✍ Debora M. Miranda; Bernardo L. Wajchenberg; Maria R. Calsolari; Marcos J. Aguiar 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB

Identification of a novel missense mutat

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 —A challenging problem

✍ Melanie A. Knight; Elsdon Storey; R.J. McKinlay Gardner; Peter Hand; Susan M. Fo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

Identification of an A-to-G Missense Mut

Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1 Gene Complex That Causes Crigler-Najjar Syndrome Type 2

✍ Nabil Moghrabi; Douglas J. Clarke; Maureen Boxer; Brian Burchell 📂 Article 📅 1993 🏛 Elsevier Science 🌐 English ⚖ 260 KB

Missense and nonsense mutations in the a

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

✍ Audrey McAlinden; Marja Majava; Paul N. Bishop; Rahat Perveen; Graeme CM. Black; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long

Novel nonsense mutation (R194X) in the P

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

✍ Hiroaki Ono; Nobuo Sakura; Katsuko Yamashita; Isao Yuasa; Kousaku Ohno 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 123 KB

A novel congenital disorder of glycosyla

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

✍ Pérez, Belén; Medrano, Celia; Ecay, Maria Jesus; Ruiz-Sala, Pedro; Martínez-Pard 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 450 KB