✦ LIBER ✦

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

✍ Scribed by Eva Klopocki; Bianca P. Hennig; Katarina Dathe; Randi Koll; Thomy de Ravel; Emiel Baten; Eveline Blom; Yves Gillerot; Johannes F.W. Weigel; Gabriele Krüger; Olaf Hiort; Petra Seemann; Stefan Mundlos

Book ID: 113422782
Publisher: American Society of Human Genetics
Year: 2010
Tongue: English
Weight: 492 KB
Volume: 86
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.01.023

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A New Subtype of Brachydactyly Type B Ca

A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN

✍ K. Lehmann; P. Seemann; F. Silan; T.O. Goecke; S. Irgang; K.W. Kjaer; S. Kjaerga 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 505 KB

Primary hyperoxaluria type 1 and brachyd

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

✍ Rachaneekorn Tammachote; Nelawat Kingsuwannapong; Siraprapa Tongkobpetch; Chalur 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB

Stability of deletion, insertion and poi

Stability of deletion, insertion and point mutations at thebronzelocus in maize

✍ E. J. Ralston; J. J. English; H. K. Dooner 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 516 KB

Deletions and Point Mutations of LRRC50

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

✍ Niki Tomas Loges; Heike Olbrich; Anita Becker-Heck; Karsten Häffner; Angelina He 📂 Article 📅 2009 🏛 American Society of Human Genetics 🌐 English ⚖ 894 KB

A deletion and point mutation study of t

A deletion and point mutation study of the human papillomavirus type 16 major capsid gene

✍ Arvind Varsani; Anna-Lise Williamson; Mohamed A. Jaffer; Edward P. Rybicki 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 965 KB

Ageing muscle: clonal expansions of mito

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

✍ Guillemette Fayet; Monica Jansson; Damien Sternberg; Ali-Reza Moslemi; Patricia 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 340 KB