✦ LIBER ✦

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

✍ Scribed by R. Happle; R. J. S. Phillips; A. Roessner; G. Jünemann

Book ID: 104704997
Publisher: Springer
Year: 1983
Tongue: English
Weight: 523 KB
Volume: 63
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00285392

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical variation in X-linked dominant

Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

✍ L. Feldmeyer; B. Mevorah; K.H. Grzeschik; M. Huber; D. Hohl 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 246 KB

Novel and recurrentEBP mutations in X-li

Novel and recurrentEBP mutations in X-linked dominant chondrodysplasia punctata

✍ Ikegawa, Shiro ;Ohashi, Hirofumi ;Ogata, Tsutomu ;Honda, Akira ;Tsukahara, Masat 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 698 KB

Identification and biochemical character

Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata

✍ Paola Ferrante; Silvia Messali; Andrea Ballabio; Germana Meroni 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 938 KB

X-linked dominant chondrodysplasia punct

X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males

✍ Happle, Rudolf 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 1 views

X-linked dominant chondrodysplasia punct

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

✍ Aughton, David J. ;Kelley, Richard I. ;Metzenberg, Aida ;Pureza, Vincent ;Pauli, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB 👁 1 views

X-linked recessive chondrodysplasia punc

X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

✍ Nicola Brunetti-Pierri; Maria Vittoria Andreucci; Rosaria Tuzzi; Giovanna Robert 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 2 views

## Abstract X‐linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (__ARSE__) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. We performed mutational analysis of the __ARSE__ gene in a series of 16 male patients, and we f