An intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein

Hormone and Metabolic Research

Volumn 41, Issue 8, 2009, Pages 630-634

  Drori Herishanu, L ^a   Horvath, A ^a   Nesterova, M ^a   Patronas, Y ^a   Lodish, M ^a,b   Bimpaki, E ^a   Patronas, N ^a   Agarwal, S ^c   Salvatori, R ^d   Martari, M ^a   Mericq, V ^e   Stratakis, C A ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF CHILE   (Chile)

Author keywords

Children; Genotype; Menin; Multiple endocrine neoplasia type 1; Pituitary tumors

Indexed keywords

CABERGOLINE; COMPLEMENTARY DNA; MEN1 PROTEIN, HUMAN; MESSENGER RNA; ONCOPROTEIN;

AMPLICON; ANAMNESIS; ARTICLE; CANCER GENETICS; CASE REPORT; CELL LYSATE; CHILD; CLINICAL FEATURE; CODON; DNA DETERMINATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HEREDITY; HUMAN; MALE; MEN1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROLACTINOMA; RNA ANALYSIS; RNA TRANSLATION; SCHOOL CHILD; WESTERN BLOTTING; FEMALE; GENETICS; INTRON; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CHILD; FEMALE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROLACTINOMA; PROTO-ONCOGENE PROTEINS; RNA, MESSENGER;

EID: 70349568518     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0029-1216358     Document Type: Article

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