In April 2016 Manchester eScholar was replaced by the University of Manchester’s new Research Information Management System, Pure. In the autumn the University’s research outputs will be available to search and browse via a new Research Portal. Until then the University’s full publication record can be accessed via a temporary portal and the old eScholar content is available to search and browse via this archive.

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Pattison L, Crow YJ, Deeble V, Jackson A, Jafri H, Rashid Y, Roberts E, Woods C

Am J Hum Genet. 2000;67( 6):1578-80.

Access to files

Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

Full-text held externally

Abstract

Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Published date:
Journal title:
ISSN:
Place of publication:
UNITED STATES
Volume:
67( 6)
Start page:
1578
End page:
80
Pagination:
1578-80
Digital Object Identifier:
10.1086/316910
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d32014
Created:
2nd September, 2009, 14:14:27
Last modified:
3rd March, 2010, 18:56:05

Can we help?

The library chat service will be available from 11am-3pm Monday to Friday (excluding Bank Holidays). You can also email your enquiry to us.