Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects
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Title
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 18, Pages 5079-5092
Publisher
Oxford University Press (OUP)
Online
2015-06-17
DOI
10.1093/hmg/ddv226
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Note: Only part of the references are listed.- Codon Arg15 Mutations of theAP2S1Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations
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- (2013) Yasuko Fujisawa et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Ruling in a Suspect: The Role ofAP2S1Mutations in Familial Hypocalciuric Hypercalcemia Type 3
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- Dynamin2, Clathrin, and Lipid Rafts Mediate Endocytosis of the Apical Na/K/2Cl Cotransporter NKCC2 in Thick Ascending Limbs
- (2012) Gustavo R. Ares et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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- (2010) David C. Whitcomb Annual Review of Medicine
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- Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3
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- A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex
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