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Article: Physical mapping of the holoprosencephaly critical region on chromosome 7q36

TitlePhysical mapping of the holoprosencephaly critical region on chromosome 7q36
Authors
Issue Date1993
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1993, v. 3 n. 3, p. 247-251 How to Cite?
AbstractHoloprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.
Persistent Identifierhttp://hdl.handle.net/10722/44256
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorGurrieri, Fen_HK
dc.contributor.authorTrask, BJen_HK
dc.contributor.authorVan Den Engh, Gen_HK
dc.contributor.authorKrauss, CMen_HK
dc.contributor.authorSchinzel, Aen_HK
dc.contributor.authorPettenati, MJen_HK
dc.contributor.authorSchindler, Den_HK
dc.contributor.authorDietzBand, Jen_HK
dc.contributor.authorVergnaud, Gen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMuenke, Men_HK
dc.date.accessioned2007-09-12T03:50:01Z-
dc.date.available2007-09-12T03:50:01Z-
dc.date.issued1993en_HK
dc.identifier.citationNature Genetics, 1993, v. 3 n. 3, p. 247-251en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44256-
dc.description.abstractHoloprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshGene deletionen_HK
dc.subject.meshHoloprosencephaly - genetics - pathologyen_HK
dc.subject.meshInfant, newbornen_HK
dc.subject.meshPolymerase chain reactionen_HK
dc.titlePhysical mapping of the holoprosencephaly critical region on chromosome 7q36en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1038/ng0393-247en_HK
dc.identifier.pmid8485580-
dc.identifier.scopuseid_2-s2.0-0027477150en_HK
dc.identifier.volume3en_HK
dc.identifier.issue3en_HK
dc.identifier.spage247en_HK
dc.identifier.epage251en_HK
dc.identifier.isiWOS:A1993KP79000015-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridGurrieri, F=7003681097en_HK
dc.identifier.scopusauthoridTrask, BJ=7005020389en_HK
dc.identifier.scopusauthoridVan Den Engh, G=7005203002en_HK
dc.identifier.scopusauthoridKrauss, CM=7004220463en_HK
dc.identifier.scopusauthoridSchinzel, A=7102713996en_HK
dc.identifier.scopusauthoridPettenati, MJ=7005399206en_HK
dc.identifier.scopusauthoridSchindler, D=36729359000en_HK
dc.identifier.scopusauthoridDietzBand, J=6603384892en_HK
dc.identifier.scopusauthoridVergnaud, G=7006017569en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK

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