Molecular genetic testing in endocrinology - A practical guide

Endocrine Practice

Volumn 18, Issue 1, 2012, Pages 85-89

  Kirmani, Salman ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; RNA;

CUSHING SYNDROME; DNA SEQUENCE; ENDOCRINE DISEASE; ENDOCRINOLOGY; EXON; FRAMESHIFT MUTATION; GENE STRUCTURE; GENETIC RISK; GENETIC SCREENING; GENETICS; GENOMICS; HEALTH CARE COST; HUMAN; INTRON; KLINEFELTER SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONSENSE MUTATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME;

EID: 84857539130     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP11364.RA     Document Type: Review

References (3)

1. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nature Genet. 2010;42:30-35.
2. Bilgüvar K, Oztürk AK, Louvi A, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010;467:207-210.
3. Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequenc-ing. Science. 2010;328:636-639.