Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? (Q28218867)

2

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Alfried Kohlschütter

object named as

Alfried Kohlschütter

7

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Graziella Uziel

5

object named as

Graziella Uziel

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Thomas Bettecken

10

object named as

Thomas Bettecken

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author name string

Claudia Rubie

1

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Jutta Gärtner

3

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Markus Siekiera

4

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Bernd Kohlmann

6

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Gerald Stöber

22q11 deletion syndrome: a genetic subtype of schizophrenia

9

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language of work or name

English

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publication date

January 2003

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published in

Human Mutation

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volume

21

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issue

1

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page(s)

45-52

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cites work

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Structural models of the transmembrane region of voltage-gated and other K+ channels in open, closed, and inactivated conformations

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Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

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Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

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A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia

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A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

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Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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Linkage and associated studies of schizophrenia

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Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases

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Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel

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Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

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DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

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Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region

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Recent advances in the neuropathology of schizophrenia

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Molecular genetics of metachromatic leukodystrophy

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Velo-cardio-facial syndrome: a review of 120 patients.

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Sex identification by polymerase chain reaction using X-Y homologous primer

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Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1

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Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis

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Periodic catatonia: A schizophrenic subtype with major gene effect and anticipation

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Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15

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Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

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