✦ LIBER ✦

Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

✍ Scribed by Ti Lin; Bonnie M. Orrison; Ann-Marie Leahey; Sharon F. Suchy; David J. Bernard; Richard A. Lewis; Robert L. Nussbaum

Book ID: 117855134
Publisher: American Society of Human Genetics
Year: 1997
Tongue: English
Weight: 103 KB
Volume: 60
Category: Article
ISSN: 0002-9297
DOI: 10.1086/515471

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Carrier Assessment in Families with Lowe

Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

✍ Wulf Röschinger; Ania C. Muntau; Günther Rudolph; Adelbert A. Roscher; Stefan Ka 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 228 KB

Identification of the OCRL1 gene mutatio

Identification of the OCRL1 gene mutations in two Chinese families with Lowe's syndrome

✍ Yao-Hua Ke; Jing-Wei He; Wen-Zhen Fu; Zhen-Lin Zhang 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 54 KB

Identification of two novel mutations in

Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome

✍ YAO-HUA KE; JIN-WEI HE; WEN-ZHEN FU; ZHEN-LIN ZHANG 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 719 KB

Physical mapping and genomic structure o

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

✍ R. L. Nussbaum; Bonnie M. Orrison; Pasi A. Jänne; Lawrence Charnas; A. Craig Chi 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 76 KB

Oculocerebrorenal syndrome of Lowe: Thre

Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

✍ Kawano, Tomoyasu; Indo, Yasuhiro; Nakazato, Hitoshi; Shimadzu, Mitsunobu; Matsud 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 3 views

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified

Characterization of a Germline Mosaicism

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

✍ Véronique Satre; Nicole Monnier; Florence Berthoin; Carmen Ayuso; Alain Joannard 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 264 KB