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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-4-28
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pubmed:abstractText |
Although clinical reports have described infantile malignant autosomal recessive osteopetrosis (ARO) in Indian patients, no published data are available about the genetic causes of ARO in this population. We investigated the main genetic causes of ARO in eight Indian patients with early postnatal onset and the typical severe clinical course including visual impairment and anaemia.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0971-5916
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
131
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
508-14
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pubmed:meshHeading |
pubmed-meshheading:20424301-Chloride Channels,
pubmed-meshheading:20424301-Female,
pubmed-meshheading:20424301-Genes, Recessive,
pubmed-meshheading:20424301-Humans,
pubmed-meshheading:20424301-India,
pubmed-meshheading:20424301-Infant,
pubmed-meshheading:20424301-Male,
pubmed-meshheading:20424301-Mutation,
pubmed-meshheading:20424301-Osteopetrosis,
pubmed-meshheading:20424301-Vacuolar Proton-Translocating ATPases
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pubmed:year |
2010
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pubmed:articleTitle |
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
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pubmed:affiliation |
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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