✦ LIBER ✦

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

✍ Scribed by Heather M. McLaughlin; Reiko Sakaguchi; Cuiping Liu; Takao Igarashi; Davut Pehlivan; Kristine Chu; Ram Iyer; Pedro Cruz; Praveen F. Cherukuri; Nancy F. Hansen; James C. Mullikin; Leslie G. Biesecker; Thomas E. Wilson; Victor Ionasescu; Garth Nicholson; Charles Searby; Kevin Talbot; Jeffrey M. Vance; Stephan Züchner; Kinga Szigeti; James R. Lupski; Ya-Ming Hou; Eric D. Green; Anthony Antonellis

Book ID: 113422921
Publisher: American Society of Human Genetics
Year: 2010
Tongue: English
Weight: 728 KB
Volume: 87
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2010.09.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Compound heterozygosity for a nonsense m

Compound heterozygosity for a nonsense mutations and an exon deletion in the lysyl hydroxylase gene of a patient with ehlers danlos syndrome type VI

✍ H.N. Yeowell; L.C. Walker; M.N. Yeowell; S.R. Pinnell 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 105 KB

A Recurrent loss-of-function alanyl-tRNA

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

✍ Heather M. McLaughlin; Reiko Sakaguchi; William Giblin; NIH Intramural Sequencin 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 426 KB 👁 1 views

Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expr

Mutations in PRPS1, Which Encodes the Ph

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

✍ Hee-Jin Kim; Kwang-Min Sohn; Michael E. Shy; Karen M. Krajewski; Miok Hwang; Jun 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 552 KB

Identification of the mutations in the p

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

✍ C. Picat; M. H. Delfau; F. W. M. de Rooij; G. J. J. Beukeveld; B. G. Wolthers; S 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 370 KB

658 Identification of novel mutations fo

658 Identification of novel mutations for compound heterozygosity in a patient with iron overload due to hereditary aceruloplasminemia

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

Compound heterozygosity for two MSH6 mut

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor

✍ Plaschke, Jens; Linnebacher, Michael; Kloor, Matthias; Gebert, Johannes; Cremer, 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 191 KB