A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

Endocrine Journal

Volumn 60, Issue 7, 2013, Pages 855-859

  Yamaguchi, Rie ^a   Kato, Fumiko ^a   Hasegawa, Tomonobu ^b   Katsumata, Noriyuki ^c   Fukami, Maki ^c   Matsui, Toshiharu ^d   Nagasaki, Keisuke ^e   Ogata, Tsutomu ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d Nagaoka Chuo General Hospital   (Japan)

^e NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

Author keywords

Familial glucocorticoid deficiency; In silico functional analysis; NNT

Indexed keywords

ALDOSTERONE; HYDROCORTISONE; MINICHROMOSOME MAINTENANCE PROTEIN 4; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE; NUCLEAR RECEPTOR DAX 1; PHENYLALANINE; SERINE;

ALDOSTERONE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONTROLLED STUDY; DAX1 GENE; FAMILIAL GLUCOCORTICOID DEFICIENCY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; JAPANESE; MALE; MC2R GENE; MCM4 GENE; MISSENSE MUTATION; MRAP GENE; MUTATIONAL ANALYSIS; NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE GENE; PLASMA RENIN ACTIVITY; PRESCHOOL CHILD; PROTEIN FUNCTION; RESIDUE ANALYSIS; SF1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN PIGMENTATION; STAR GENE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; GLUCOCORTICOIDS; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NADP TRANSHYDROGENASES;

EID: 84880944060     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.EJ13-0024     Document Type: Article

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