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EHLERS-DANLOS SYNDROME, PROGEROID FORM
Known as:
Galactosyltransferase 1 deficiency
, EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES
, Galactosyltransferase I Deficiency
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National Institutes of Health
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Related topics
Related topics
16 relations
Arachnodactyly
Atrophic scars
Autosomal recessive inheritance
B4GALT7, 1-BP DUP, 277C
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Broader (1)
Ehlers-Danlos Syndrome
Papers overview
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Review
2007
Review
2007
J. R. Lupski and P.T. Stankiewicz: Genomic disorders: the genomic basis of disease
C. Shaw-Smith
Human Genetics
2007
Corpus ID: 32310540
This is a useful and interesting book which brings into the same volume subjects as diverse as the repeat content of the genome…
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1988
1988
PARTIAL PURIFICATION AND CHARACTERIZATION OF PROTEODERMATAN SULPHATE-DEGRADING PROTEINASES PRODUCED BY HUMAN GINGIVAL FIBROBLASTS
T. Nakano
,
P. Scott
1988
Corpus ID: 74274415
Two enzymes capable of degrading the protein core of proteodermatan sulphate were isolated and partially purified in latent form…
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