A new locus for variant late infantile neuronal ceroid lipofuscinosis -: CLN7

被引：39
作者：
Wheeler, RB
Sharp, JD
Mitchell, WA
Bate, SL
Williams, RE
Lake, BD
Gardiner, RM
机构：
[1] Univ London Univ Coll, Sch Med, Rayne Inst, Dept Paediat, London WC1E 6JJ, England
[2] Great Ormond St Hosp Children, Dept Histopathol, London WC1N 3H, England
来源：
MOLECULAR GENETICS AND METABOLISM | 1999年 / 66卷 / 04期
基金：
英国惠康基金;
关键词：
LINCL; variant LINCL; CLN7; homozygosity mapping;
D O I：
10.1006/mgme.1999.2804
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7. (C) 1999 Academic Press.
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收藏
页码：337 / 338
页数：2
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