✦ LIBER ✦

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

✍ Scribed by Li, Dong; Weber, David R; Deardorff, Matthew A; Hakonarson, Hakon; Levine, Michael A

Book ID: 124094211
Publisher: Nature Publishing Group
Year: 2014
Tongue: English
Weight: 284 KB
Volume: 23
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2014.76

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome Sequencing Reveals a Homozygous SY

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

✍ Hiroshi Doi; Kunihiro Yoshida; Takao Yasuda; Mitsunori Fukuda; Yoko Fukuda; Hiro 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 808 KB

Whole-exome sequencing identifiesMYO15Am

Whole-exome sequencing identifiesMYO15Amutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

✍ Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park… 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 660 KB

Whole-Exome Sequencing Identifies LRIT3

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Zeitz, Christina; Jacobson, Samuel G.; Hamel, Christian P.; Bujakowska, Kinga; N 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 738 KB

Exome sequencing identifies mutations in

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

✍ Filges, I.; Nosova, E.; Bruder, E.; Tercanli, S.; Townsend, K.; Gibson, W.T.; Rö 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 736 KB

Exome Sequencing Reveals Mutations in TR

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

✍ Zhimiao Lin; Quan Chen; Mingyang Lee; Xu Cao; Jie Zhang; Donglai Ma; Long Chen; 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 934 KB

Exome sequencing reveals a homozygous mu

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

✍ Prasad, Chitra; Melançon, Serge B.; Rupar, C. Anthony; Prasad, Asuri N.; Nunez, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 471 KB