Mutational analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 7, 2014, Pages

  Rogers, Angela ^a,b   Nesbit, M Andrew ^a,b   Hannan, Fadil M ^a,b   Howles, Sarah A ^a,b   Gorvin, Caroline M ^a,b   Cranston, Treena ^c   Allgrove, Jeremy ^d,e   Bevan, John S ^f   Bano, Gul ^g   Brain, Caroline ^d   Datta, Vipan ^h   Grossman, Ashley B ^c   Hodgson, Shirley V ^g   Izatt, Louise ⁱ   Millar Jones, Lynne ^j   Pearce, Simon H ^k   Robertson, Lisa ^l   Selby, Peter L ^m   Shine, Brian ⁿ   Snape, Katie ^g   Warner, Justin ^o   Thakker, Rajesh V ^a,b   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e ROYAL LONDON HOSPITAL   (United Kingdom)

^f ABERDEEN ROYAL INFIRMARY   (United Kingdom)

^g ST GEORGE S HOSPITAL   (United Kingdom)

^h NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

ⁱ GUY S HOSPITAL   (United Kingdom)

^j ROYAL GLAMORGAN HOSPITAL   (United Kingdom)

^k ROYAL VICTORIA INFIRMARY   (United Kingdom)

^l LEICESTER ROYAL INFIRMARY   (United Kingdom)

^m MANCHESTER ROYAL INFIRMARY   (United Kingdom)

ⁿ JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^o UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AP2S1 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPOCALCEMIA TYPE 3; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYPOCALCEMIA; INFANT; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADAPTOR PROTEIN COMPLEX 2; ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; HUMANS; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84904052548     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3909     Document Type: Article

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