KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

Human Mutation

Volumn 25, Issue 1, 2005, Pages 22-27

  Massa, Ornella ^a   Iafusco, Dario ^b   D'Amato, Elena ^c   Gloyn, Anna L ^d   Hattersley, Andrew T ^d   Pasquino, Bruno ^e   Tonini, Giorgio ^f   Dammacco, Francesco ^g   Zanette, Giorgio ^h   Meschi, Franco ⁱ   Porzio, Ottavia ^j   Bottazzo, Gianfranco ^a   Crinó, Antonino ^a   Lorini, Renata ^c   Cerutti, Franco ^k   Vanelli, Maurizio ^l   Barbetti, Fabrizio ^a,m  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d PENINSULA MEDICAL SCHOOL   (United Kingdom)

^e General Regional Hospital   (Italy)

^f INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^g POLICLINICO   (Italy)

^h Diabetic Clinic   (Italy)

ⁱ VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^j UNIVERSITY OF ROME TOR VERGATA   (Italy)

^k UNIVERSITY OF TURIN   (Italy)

^l UNIVERSITY OF PARMA   (Italy)

^m IBCIT   (Italy)

more..

Author keywords

Developmental delay; KATP channel; KCNJ11; Kir6.2; Neonatal diabetes; PNDM

Indexed keywords

ADENOSINE TRIPHOSPHATE; AMINO ACID;

ADOLESCENT; ARTICLE; AUTOIMMUNE DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; FEMALE; GENE; GENE KCNJ11; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MOTOR DYSFUNCTION; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PERMANENT NEONATAL DIABETES MELLITUS; PRIORITY JOURNAL;

DIABETES MELLITUS; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 19944427182     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20124     Document Type: Article

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