✦ LIBER ✦

Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans

✍ Scribed by Shaheen, Ranad; Shamseldin, Hanan E.; Loucks, Catrina M.; Seidahmed, Mohammed Zain; Ansari, Shinu; Ibrahim Khalil, Mohamed; Al-Yacoub, Nadya; Davis, Erica E.; Mola, Natalie A.; Szymanska, Katarzyna; Herridge, Warren; Chudley, Albert E.; Chodirker, Bernard N.; Schwartzentruber, Jeremy; Majewski, Jacek; Katsanis, Nicholas; Poizat, Coralie; Johnson, Colin A.; Parboosingh, Jillian; Boycott, Kym M.; Innes, A. Micheil; Alkuraya, Fowzan S.

Book ID: 122210613
Publisher: American Society of Human Genetics
Year: 2014
Tongue: English
Weight: 885 KB
Volume: 94
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.11.010

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in STIL, Encoding a Pericentri

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

✍ Arun Kumar; Satish C. Girimaji; Mahesh R. Duvvari; Susan H. Blanton 📂 Article 📅 2009 🏛 American Society of Human Genetics 🌐 English ⚖ 464 KB

Mutations in CEP290, which encodes a cen

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

✍ Valente, Enza Maria; Silhavy, Jennifer L; Brancati, Francesco; Barrano, Giuseppe 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 299 KB

Localized mutations in the gene encoding

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

✍ Robertson, Stephen P.; Twigg, Stephen R.F.; Sutherland-Smith, Andrew J.; Biancal 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 663 KB

Mutations in SIP1, encoding Smad interac

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

✍ Wakamatsu, Nobuaki; Yamada, Yasukazu; Yamada, Kenichiro; Ono, Takao; Nomura, Nor 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 288 KB

Mutations in SNRPE, which Encodes a Core

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

✍ Pasternack, Sandra M.; Refke, Melanie; Paknia, Elham; Hennies, Hans Christian; F 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 760 KB

A mutation in OTOF, encoding otoferlin,

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

✍ Petit, Christine; Yasunaga, Shin'ichiro; Grati, M'hamed; Cohen-Salmon, Martine; 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 261 KB