title: A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA.
abstract: Using restriction endonuclease analysis and a human growth hormone cDNA probe, we have found a Chinese family with a human growth hormone gene deletion. Two affected sibs are homozygous for a deletion of approximately 7.1 kb of DNA, which contains the normal human growth hormone gene. The patients' parents and grandmothers are heterozygous for the deleted gene. Their grandfathers are normal and homozygous for the hGH-N gene. All of them have normal stature.
authors.affiliation: Department of Biochemistry, Shanghai Second Medical University, China.
authors.forename: Y A
authors.initials: YA
authors.lastname: He
authors.forename: S S
authors.initials: SS
authors.lastname: Chen
authors.forename: Y X
authors.initials: YX
authors.lastname: Wang
authors.forename: X Y
authors.initials: XY
authors.lastname: Lin
authors.forename: D F
authors.initials: DF
authors.lastname: Wang
mesh_terms: D001345:Autoradiography; D015139:Blotting, Southern; D001827:Body Height; D001835:Body Weight; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D008297:Male; D008970:Molecular Weight; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D013006:Growth Hormone