Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Nature Genetics

Volumn 45, Issue 1, 2013, Pages 93-97

  Nesbit, M Andrew ^a   Hannan, Fadil M ^a   Howles, Sarah A ^a   Reed, Anita A C ^a   Cranston, Treena ^b   Thakker, Clare E ^a   Gregory, Lorna ^c   Rimmer, Andrew J ^c   Rust, Nigel ^d   Graham, Una ^e   Morrison, Patrick J ^f   Hunter, Steven J ^e   Whyte, Michael P ^g   Mcvean, Gil ^c   Buck, David ^c   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e ROYAL VICTORIA HOSPITAL   (United Kingdom)

^f QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^g SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR PROTEIN 2 SIGMA; CALCIUM; UNCLASSIFIED DRUG;

ARTICLE; ENDOCYTOSIS; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3; GENETIC ASSOCIATION; HYPERCALCEMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADULT; AMINO ACID SEQUENCE; CALCIUM; CONSERVED SEQUENCE; FEMALE; HUMANS; HYPERCALCEMIA; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN CONFORMATION; RECEPTORS, CALCIUM-SENSING; SEQUENCE ALIGNMENT;

EID: 84871949038     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2492     Document Type: Article

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