Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

Genetics in Medicine

Volumn 1, Issue 1, 1998, Pages 29-33

  Pilz, Daniela T ^b   Macha, Michelle E ^b   Precht, Kathrin S ^b   Smith, Ann C M ^b   Dobyns, William B ^b   Ledbetter, David H ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b NONE

Author keywords

FISH; LIS1 gene; Lissencephaly

Indexed keywords

1 ALKYL 2 ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; MICROTUBULE ASSOCIATED PROTEIN; PAFAH1B1 PROTEIN, HUMAN;

ARTICLE; BRAIN; CHROMOSOME 17; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC MARKER; GENETICS; HUMAN; MALE; MUTATION;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; BRAIN; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE DELETION; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION;

EID: 0032195408     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-199811000-00007     Document Type: Article

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