20806042

Source:http://linkedlifedata.com/resource/pubmed/id/20806042

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0030761, umls-concept:C0152035, umls-concept:C0205314, umls-concept:C0678227, umls-concept:C0679622, umls-concept:C1415075, umls-concept:C1744681, umls-concept:C1861829
pubmed:dateCreated	2010-8-31
pubmed:abstractText	To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/connexin 50
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:HSUJ YJY, pubmed-author:HuShanshanS, pubmed-author:QiYanhuaY, pubmed-author:WangBinbinB, pubmed-author:WangJingJ, pubmed-author:XXX, pubmed-author:ZhouGuangkaiG
pubmed:issnType	Electronic
pubmed:volume	16
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1585-92
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:20806042-Amino Acid Sequence, pubmed-meshheading:20806042-Asian Continental Ancestry Group, pubmed-meshheading:20806042-Base Sequence, pubmed-meshheading:20806042-Cataract, pubmed-meshheading:20806042-Child, pubmed-meshheading:20806042-Child, Preschool, pubmed-meshheading:20806042-China, pubmed-meshheading:20806042-Connexins, pubmed-meshheading:20806042-Cornea, pubmed-meshheading:20806042-DNA Mutational Analysis, pubmed-meshheading:20806042-Eye Proteins, pubmed-meshheading:20806042-Female, pubmed-meshheading:20806042-Genes, Dominant, pubmed-meshheading:20806042-Humans, pubmed-meshheading:20806042-Hydrophobic and Hydrophilic Interactions, pubmed-meshheading:20806042-Male, pubmed-meshheading:20806042-Molecular Sequence Data, pubmed-meshheading:20806042-Mutation, pubmed-meshheading:20806042-Pedigree, pubmed-meshheading:20806042-Protein Structure, Secondary, pubmed-meshheading:20806042-Syndrome
pubmed:year	2010
pubmed:articleTitle	A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.
pubmed:affiliation	Department of Ophthalmology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't