Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome

Human Genetics

Volumn 103, Issue 5, 1998, Pages 586-589

  Sakamoto, Michiko ^a   Ono, Jiro ^a   Okada, Shintaro ^a   Masuno, Mitsuo ^b   Nakamura, Yusuke ^a   Kurahashi, Hiroki ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

AGYRIA; ARTICLE; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; HUMAN; JAPAN; MILLER DIEKER SYNDROME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; BRAIN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; JAPAN; KARYOTYPING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDROME;

ACRONICTA LEPORINA;

EID: 0031792942     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050873     Document Type: Article

References (8)

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5. Kurahushi H, Sakamoto M. Ono J, Honda A, Okada S, Nakamura Y (1998) Molecular cloning of chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17) Hum Genet (in press)
6. Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y (1995) Miller-Dicker syndrome due to maternal cryptic translocation t(10;17)(q26.3;pl3.3) Am J Med Genet 59:441-443
7. Nigro CL, Chong SS, Smith ACM, Dobyns WB, Carrozzo R, Ledbetter DH (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 6:157-164
8. Portes V, Pinard JM, Billuart P, Vinet MC, Koulakoff A, Carrié A, Gelot A, Dupuis E, Motte J, Berwald-Netter Y, Catala M, Kahn A, Beldjord C, Chelly J (1998) A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 92:51-61