A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 2, 2003, Pages 820-826

  Fofanova, Olga V ^a,d   Evgrafov, Oleg V ^b   Polyakov, Alexander V ^b   Poltaraus, Andrey B ^c   Peterkova, Valentina A ^a   Dedov, Ivan I ^a  

^a N N BLOKHIN NATIONAL MEDICAL RESEARCH CENTER OF ONCOLOGY   (Russian Federation)

^b RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^c ENGELHARDT INSTITUTE OF MOLECULAR BIOLOGY   (Russian Federation)

^d INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; RUSSIAN FEDERATION; SINGLE STRAND CONFORMATION POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMAN GROWTH HORMONE; HUMANS; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; RUSSIA;

PSEUDOMONAS PHAGE GH-1;

EID: 0037326151     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020269     Document Type: Article

References (26)

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