A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: Founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene

Growth Hormone and IGF Research

Volumn 14, Issue 5, 2004, Pages 394-401

  Kamijo, Takashi ^a   Hayashi, Yoshitaka ^b   Seo, Hisao ^b   Yamamoto, Michiyo ^c   Ogawa, Masamichi ^c   Choski, Chandra S ^d   Sawant, Nitin J ^d   Colaco, Marie P ^e   Desai, Meena P ^d  

^a Kamiida Daiichi General Hospital   (Japan)

^b NAGOYA UNIVERSITY   (Japan)

^c Ogawa Clinic   (Japan)

^d Sir H Nurrotumdas Med Res Soc   (India)

^e B J WADIA HOSPITAL FOR CHILDREN   (India)

Author keywords

Founder effect; GHRHR gene; IGHD; Nonsense mutation

Indexed keywords

DNA FRAGMENT; GENOMIC DNA; GROWTH HORMONE RELEASING FACTOR RECEPTOR;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA ISOLATION; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; GROWTH HORMONE DEFICIENCY; HOMOZYGOSITY; HUMAN; INDIA; MALE; MOSLEM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE; POPULATION RESEARCH; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CODON, NONSENSE; DINUCLEOTIDE REPEATS; FOUNDER EFFECT; HUMAN GROWTH HORMONE; HUMANS; INDIA; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE;

EID: 4444239210     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ghir.2004.05.001     Document Type: Article

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