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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.
Kamijo, Takashi; Hayashi, Yoshitaka; Seo, Hisao; Yamamoto, Michiyo; Ogawa, Masamichi; Choski, Chandra S; Sawant, Nitin J; Colaco, Marie P; Desai, Meena P.
Affiliation
  • Kamijo T; Department of Pediatrics, Kamiida Daiichi General Hospital, Nagoya, Japan.
Growth Horm IGF Res ; 14(5): 394-401, 2004 Oct.
Article in En | MEDLINE | ID: mdl-15336233
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Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Genetic / Receptors, Pituitary Hormone-Regulating Hormone / Receptors, Neuropeptide / Founder Effect / Codon, Nonsense / Dinucleotide Repeats / Human Growth Hormone Limits: Adolescent / Adult / Child / Humans Country/Region as subject: Asia Language: En Journal: Growth Horm IGF Res Journal subject: ENDOCRINOLOGIA Year: 2004 Document type: Article Affiliation country: Japan
Search on Google
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Genetic / Receptors, Pituitary Hormone-Regulating Hormone / Receptors, Neuropeptide / Founder Effect / Codon, Nonsense / Dinucleotide Repeats / Human Growth Hormone Limits: Adolescent / Adult / Child / Humans Country/Region as subject: Asia Language: En Journal: Growth Horm IGF Res Journal subject: ENDOCRINOLOGIA Year: 2004 Document type: Article Affiliation country: Japan