Article
A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jun 2007
Hayashi Yoshitaka, Kamijo Takashi, Yamamoto Michiyo, Murata Yoshiharu, Phillips John A, Ogawa Masamichi, Seo Hisao
Abstract excerpt
OBJECTIVE: To characterize the cause of a sporadic isolated growth hormone deficiency in a single patient. METHODS: Genomic DNA was extracted from blood samples of the patient and his family. Exons and exon-intron junctions of the GH-1 gene were amplified by PCR and sequenced. To characterize pos...
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