Literature DB >> 2325087

A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA.

Y A He1, S S Chen, Y X Wang, X Y Lin, D F Wang.   

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.

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Year:  1990        PMID： 2325087      PMCID： PMC1016995          DOI： 10.1136/jmg.27.3.151

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  The human growth hormone gene family: structure and evolution of the chromosomal locus.

Authors:  G S Barsh; P H Seeburg; R E Gelinas
Journal:  Nucleic Acids Res       Date:  1983-06-25       Impact factor: 16.971

3.  A new type of familial growth hormone deficiency due to a 8.5 kb deletion within the growth hormone gene cluster.

Authors:  S Braga; J A Phillips; E Joss; H Schwarz; K Zuppinger
Journal:  Prog Clin Biol Res       Date:  1985

4.  Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster.

Authors:  S Braga; J A Phillips; E Joss; H Schwarz; K Zuppinger
Journal:  Am J Med Genet       Date:  1986-11

5.  Human growth hormone gene deletion without antibody formation or growth arrest during treatment--a new disease entity?

Authors:  Z Laron; M Kelijman; A Pertzelan; R Keret; J M Shoffner; J S Parks
Journal:  Isr J Med Sci       Date:  1985-12

6.  Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster.

Authors:  M Goossens; R Brauner; P Czernichow; P Duquesnoy; R Rappaport
Journal:  J Clin Endocrinol Metab       Date:  1986-04       Impact factor: 5.958

7.  Growth hormone deficiency due to GH-N gene deletion in an Austrian family.

Authors:  H Frisch; J A Phillips
Journal:  Acta Endocrinol Suppl (Copenh)       Date:  1986

8.  Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A.

Authors:  M A Rivarola; J A Phillips; C J Migeon; J J Heinrich; B J Hjelle
Journal:  J Clin Endocrinol Metab       Date:  1984-07       Impact factor: 5.958

9.  Human growth hormone: complementary DNA cloning and expression in bacteria.

Authors:  J A Martial; R A Hallewell; J D Baxter; H M Goodman
Journal:  Science       Date:  1979-08-10       Impact factor: 47.728

10.  Molecular basis for familial isolated growth hormone deficiency.

Authors:  J A Phillips; B L Hjelle; P H Seeburg; M Zachmann
Journal:  Proc Natl Acad Sci U S A       Date:  1981-10       Impact factor: 11.205
View more
  3 in total

Review 1.  GH Gene Deletions and IGHD type IA.

Authors:  Chanda T Moseley; Matthew D Orenstein; John A Phillips
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

Review 2.  Genetic causes and treatment of isolated growth hormone deficiency-an update.

Authors:  Kyriaki S Alatzoglou; Mehul T Dattani
Journal:  Nat Rev Endocrinol       Date:  2010-10       Impact factor: 43.330

3.  Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients.

Authors:  Y Wang; L L Yu; Q Sheng; C Meng; J Sun; S S Chen
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318
  3 in total

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