✦ LIBER ✦

Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in theABCA4Gene

✍ Scribed by Burke, Tomas R. ;Fishman, Gerald A. ;Zernant, Jana ;Schubert, Carl ;Tsang, Stephen H. ;Smith, R. Theodore ;Ayyagari, Radha ;Koenekoop, Robert K. ;Umfress, Allison ;Ciccarelli, Maria Laura ;Baldi, Alfonso ;Iannaccone, Alessandro ;Cremers, Frans P. M. ;Klaver, Caroline C. W. ;Allikmets, Rando

Book ID: 111974313
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Year: 2012
Weight: 464 KB
Volume: 53
Category: Article
ISSN: 1552-5783
DOI: 10.1167/iovs.11-9166

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The spectrum of retinal phenotypes cause

The spectrum of retinal phenotypes caused by mutations in theABCA4gene

✍ B. Jeroen Klevering; August F. Deutman; Alessandra Maugeri; Frans P. M. Cremers; 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 264 KB

[90] A MODERATE PHENOTYPIC EXPRESSION IN

[90] A MODERATE PHENOTYPIC EXPRESSION IN A PATIENT HOMOZYGOUS FOR D200G MUTATION OF LDLR GENE

✍ L. Pisciotta; S. Martini; R. Fresa; A. Bellocchio; S. Airaldi; S. Calandra; S. B 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 55 KB

A 60-y-old chylomicronemia patient homoz

A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis

✍ Tetsu Ebara; Yoriko Endo; Shouichi Yoshiike; Masatomi Tsuji; Susumu Taguchi; Tos 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 144 KB

1-29-04 Double trouble: A3243G point mut

1-29-04 Double trouble: A3243G point mutation in the mitochondrial DNA in a patient homozygous for the most common nonsense mutation of amp deaminase gene

✍ Y. Campos; J.C. Rubio; M.A. Martín; J. Bautista; J. Arenas 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 178 KB

G.P.4.05 Childhood early onset of LGMD2B

G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene

✍ L. González-Quereda; H. Gómez; A. Cabello; N. De Luna; E. Gallardo; M. Rodriguez 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 63 KB

Superoxide dismutase in amyotrophic late

Superoxide dismutase in amyotrophic lateral sclerosis patients homozygous for the D90A mutation

✍ P. Andreas Jonsson; Karin S. Graffmo; Peter M. Andersen; Stefan L. Marklund; Tho 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 281 KB