𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Update on nomenclature for human gene mutations


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
481 KB
Volume
8
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Recommendations for a nomenclature syste
✍ Stylianos E. Antonarakis 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 79 KB 👁 1 views

## 29, 1996 in San Francisco, California. As a chairperson of the Nomenclature committee, the first author had accepted the task of preparing and circulating a document with recommendations for debate, further discussions and most importantly

Human Gene Mutation Database (HGMD®): 20
✍ Peter D. Stenson; Edward V. Ball; Matthew Mort; Andrew D. Phillips; Jacqueline A 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (www.hgmd.org). Data catalogued includes: single base-pair substitutions in coding, regulatory and splicing-releva

Mutation update for the PORCN gene
✍ Maria Paola Lombardi; Saskia Bulk; Jacopo Celli; Anne Lampe; Michael T. Gabbett; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB

Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, th

Mutations and polymorphisms in the human
✍ Mendel Tuchman; Robert J. Plante 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB

This mutation update addendum summarizes 30 new mutations and polymorphisms found in the ornithine transcarbamylase (OTC) gene since the publication in this journal of the first mutation update. Thus, more than 60 mutations and polymorphisms in the OTC gene are currently known. Most of the mutations

An update on mutations of the SLC39A4 ge
✍ Sébastien Schmitt; Sébastien Küry; Mathilde Giraud; Brigitte Dréno; Monia Kharfi 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB

Acrodermatitis enteropathica (AE) is a very rare inherited recessive disease caused by severe zinc deficiency. It typically occurs in early infancy and is characterized by periorificial and acral dermatitis, alopecia, and diarrhea. In 2002, both we and others identified the AE SLC39A4 gene located a

Toward the ideal “Mutation Update” and “
✍ Richard G.H. Cotton 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 77 KB

Locus Specific Databases (LSDBs) have been called "Knowledgebases" by Charles Scriver. Researchers dealing with a specific disease ideally should have to look no further than an LSDB for all the up-to-date data they need, so that accurate genetic healthcare can be delivered in a timely manner. This