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Review

. 1991 Nov;28(11):729-33.

doi: 10.1136/jmg.28.11.729.

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia

R J Gibbons¹, A O Wilkie, D J Weatherall, D R Higgs

Affiliations

PMID: 1770527
PMCID: PMC1017105
DOI: 10.1136/jmg.28.11.729

Review

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia

R J Gibbons et al. J Med Genet. 1991 Nov.

. 1991 Nov;28(11):729-33.

doi: 10.1136/jmg.28.11.729.

Authors

R J Gibbons¹, A O Wilkie, D J Weatherall, D R Higgs

Affiliation

¹ MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford.

PMID: 1770527
PMCID: PMC1017105
DOI: 10.1136/jmg.28.11.729

No abstract available

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References

1. Cell. 1990 Nov 16;63(4):665-72 - PubMed
1. J Med Genet. 1991 Oct;28(10):724 - PubMed
1. N Engl J Med. 1981 Sep 10;305(11):607-12 - PubMed
1. J Med Genet. 1990 May;27(5):339-40 - PubMed
1. Am J Hum Genet. 1990 Jan;46(1):1-4 - PubMed

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