Haldane was right: De novo mutations in androgen insensitivity syndrome

Journal of Pediatrics

Volumn 132, Issue 6, 1998, Pages 917-918

  Leslie, N D ^a  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; BLOOD CLOTTING FACTOR 8; ORNITHINE CARBAMOYLTRANSFERASE;

ANDROGEN INSENSITIVITY SYNDROME; DUCHENNE MUSCULAR DYSTROPHY; EDITORIAL; GENE; GENE MUTATION; GENOTYPE; HEMOPHILIA A; HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR BINDING; X CHROMOSOME LINKED DISORDER;

EID: 0031814365     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70383-X     Document Type: Editorial

References (10)

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3. MR Passos-Bueno E Bakker AL Kneppers RI Takata D Rapaport JT den Dunnen Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk Am J Hum Genet 51 1992 1150 1155
4. M Tuchman I Matsuda A Munnich S Malcolm S Strautnieks T Briede Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency Am J Med Genet 55 1995 67 70
5. O Hiort GHG Sinnecker P-M Holterhus EM Nitsche K Kruse Inherited and de novo androgen receptor gene mutations: investigation of single-case families J Pediatr 132 1998 939 943
6. I Peake Molecular genetics and counselling in haemophilia Thromb Haemost 74 1995 40 44
7. W Weidemann B Linck H Haupt B Mentrup G Romalo K Stockklauser Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene Clin Endocrinol 45 1996 733 739
8. BA Evans IA Hughes CL Bevan MN Patterson JW Gregory Phenotypic diversity in siblings with partial androgen insensitivity syndrome Arch Dis Child 76 1997 529 531
9. GHG Sinnecker O Hiort EM Nitsche P-M Holterhus K Kruse Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene Eur J Pediatr 156 1997 7 14
10. P-M Holterhus HT Burggenwirth O Hiort A Kleinkauf-Houcken K Kruse GH Sinnecker Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome J Clin Endocrinol Metab 82 1997 3584 3589