ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 752-759

  Bellanné Chantelot, Christine ^a   Saint Martin, C ^a   Ribeiro, M J ^b   Vaury, C ^a   Verkarre, V ^c   Arnoux, J B ^c   Valayannopoulos, V ^c   Gobrecht, S ^a   Sempoux, C ^d   Rahier, J ^d   Fournet, J C ^c   Jaubert, F ^c   Aigrain, Y ^c   Nihoul Fekete C ^c   De Lonlay, P ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SERVICE HOSPITALIER FRÉDÉRIC JOLIOT   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA RECEPTOR 1;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BRAIN DAMAGE; DISEASE SEVERITY; DRUG TREATMENT FAILURE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERINSULINISM; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SPLICING DEFECT;

ATP-BINDING CASSETTE TRANSPORTERS; DIAZOXIDE; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; VASODILATOR AGENTS;

EID: 78149312603     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075416     Document Type: Article

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