LESSONS IN GENETICS: MAP OF TOP EVENTS

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What is a reference sequence?

GENE THERAPY: THE PROPOSAL FOR LIPOPROTEIN LIPASE DEFICIENCY

Familial lipoprotein lipase deficiency usually presents in childhood. Stigmata of the disorder is hypertrigliceridemia. Symptoms are consis...
THE RARE CFTR MUTATION Y301C

THIS PAGE HAS BEEN MOVED: PLEASE CLICK HERE TO READ ABOUT THE Y301C MUTATION CFTR Y301C To learn more: Books and Publicatio...
PKD1/PKD2 MULTIPLE MUTATIONS

Autosomal dominant polycystic kidney disease (ADPKD) is a late-onset disease caused by mutations in the PKD1 or PKD2 gene. However, a mino...
THE DIFFERENTIAL DIAGNOSIS OF CHANARIN-DORMAN SYNDROME

Chanarin-Dorfman syndrome is a rare form of nonbullous congenital ichthyosiform erythroderma caused by mutation in the ABHD5. The diffe...
DISTAL 3p DELETION: SOMETIMES ASYMPTOMATIC

Distal 3p deletion syndrome leads to a highly variable phenotype, as almost all chromosomal aberrations do. Although, unlike most chromoso...
UPDATED REFERENCES IN SINDROMOLOGY AND RARE DISEASES

If you’re interested in gathering up-to-date information on many syndromes and rare diseases, you may enjoy the following pool of selected r...

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