Linked Life Data

6704328

Source:http://linkedlifedata.com/resource/pubmed/id/6704328

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1984-5-11
pubmed:abstractText
The child with haemoglobin H (HbH) disease and multiple congenital abnormalities reported by Borochowitz et al (1970) has been more fully investigated in view of the recent report by Weatherall et al (1981) of a 'new' syndrome of HbH disease and mental retardation. Restriction enzyme analysis indicates that the child's HbH disease results from the inheritance of an alpha-thalassaemia 2 chromosome (-alpha/) from his mother and, from his father, a chromosome which has undergone a deletion including the zeta- and alpha-globin genes as well as an undefined length of DNA. Striking similarities between our patient and Weatherall et al's patients at the clinical level and between our patient and their patient number 1 at the molecular level, confirm that a new syndrome has been defined.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
69-78
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1984
pubmed:articleTitle
The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case.
pubmed:publicationType
Journal Article, Case Reports