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Dokumenttyp:
journal article 
Autor(en):
Rubie, C; Lichtner, P; Gärtner, J; Siekiera, M; Uziel, G; Kohlmann, B; Kohlschütter, A; Meitinger, T; Stöber, G; Bettecken, T 
Titel:
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? 
Abstract:
The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant alleles were detected: one case of compound heterozygosity for a splice site mutation and a six-base-pair in-frame deletion, one patient with a homozygous frameshifting insertion-deletio...    »
 
Zeitschriftentitel:
Hum Mutat 
Jahr:
2003 
Band / Volume:
21 
Heft / Issue:
Seitenangaben Beitrag:
45-52 
Sprache:
eng 
Print-ISSN:
1059-7794 
TUM Einrichtung:
r Humangenetik