✦ LIBER ✦

Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency

✍ Scribed by Pandit, Riyaz Ahmad; Chen, Chun-Jung; Butt, Tariq Ahmad; Islam, Naquibul

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel nonsense mutation of the PEPD ge

✍ S. Kikuchi; A. Tanoue; F. Endo; S. Wakasugi; N. Matsuo; G. Tsujimoto 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 91 KB

A nonsense mutation of PEPD in four Amis

✍ Heng Wang; Biji T. Kurien; David Lundgren; Nisha C. Patel; K. M. Kaufman; David 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB 👁 1 views

Pantothenate kinase-associated neurodege

✍ Yih-Ru Wu; Chiung-Mei Chen; Chih-Ying Chao; Ron-Kuo Lyu; Guey-Jen Lee-Chen 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB

0212 Two siblings with MPS IIID: Clinica

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 128 KB

A novel PROP1 gene mutation (157delA) in

✍ Ke-ita Tatsumi; Kiyoshi Kikuchi; Kumi Tsumura; Nobuyuki Amino 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB

Identification of a novel missense mutat

✍ C. H. Wang; Brett D. Papendick; Paul Bruinsma; J. Kevin Day 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 276 KB