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PMID: 15060124 Published · ppublish English Comparative Study Evaluation Study Journal Article Research Support, Non-U.S. Gov't

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Journal of medical genetics ·Vol. 41 ·No. 4 ·2004-04-00 ·页码 e48

Mattocks C, Baralle D, Tarpey P, ffrench-Constant C, Bobrow M, Whittaker J

Abstract

暂无摘要

MeSH 主题词

DNA Mutational Analysis/methods Exons GTPase-Activating Proteins/chemistry Genes, Neurofibromatosis 1 Humans Mutation Neurofibromatosis 1/diagnosis Neurofibromin 1/chemistry Polymorphism, Genetic Protein Structure, Tertiary

化学物质

GTPase-Activating Proteins Neurofibromin 1

作者与单位

共 6 位作者，点击展开单位 / ORCID

Mattocks C

Department of Medical Genetics, Box 134, Addenbrooke's Hospital, Cambridge, UK.

Baralle D

Tarpey P

ffrench-Constant C

Bobrow M

Whittaker J

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2003.011890

Published

2004-04-00

页码

e48

Language

English

Country/Region

England

NLM ID

2985087R

勘误 / 撤稿关联

CommentIn

PMID: 15863657

CommentIn

PMID: 15994866

External Links

PubMed source DOI: 10.1136/jmg.2003.011890 View journal details

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

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