Mutations in MKKS cause Bardet-Biedl syndrome

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 15-16

  Slavotinek, Anne M ^a   Stone, Edwin M ^b   Mykytyn, Kirk ^c   Heckenlively, John R ^d   Green, Jane S ^e   Heon, Elise ^f   Musarella, Maria A ^g   Parfrey, Patrick S ^e   Sheffield, Val C ^c   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d HARBOR UCLA MEDICAL CENTER   (United States)

^e MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g LONG ISLAND COLLEGE HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DIABETES MELLITUS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HYDROMETROCOLPOS; HYPOGONADISM; KIDNEY MALFORMATION; LEARNING DISORDER; MCKUSICK KAUFMAN SYNDROME; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; BARDET-BIEDL SYNDROME; CHILD, PRESCHOOL; CLONING, MOLECULAR; CODON; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR CHAPERONES; MUTATION; MUTATION, MISSENSE; TISSUE DISTRIBUTION;

EID: 0033812186     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79116     Document Type: Article

References (14)

1. Green, J. et al. N. Engl. J. Med. 321, 1002-1009 (1989).
2. Beales, P., Elioglu, N., Woolf, A., Parker, D. & Flinter, F. J. Med. Genet. 36, 437-446 (1999).
3. David, A. et al. J. Med. Genet. 36, 599-603 (1999).
4. Stone, D. et al. Nature Genet. 25, 79-82 (2000).
5. Kwitek-Black, A.E. et al. Nature Genet. 5, 392-396 (1993).
6. Leppert, M. et al. Nature Genet. 7, 108-112 (1994).
7. Sheffield, V.C. et al. Hum. Mol. Genet. 3, 1331-1335 (1994).
8. Carmi, R. et al. Hum. Mol. Genet. 4, 9-13 (1995).
9. Young, T.L. et al. Am. J. Hum. Genet. 64, 900-904 (1999).
10. Bruford, E.A. et al. Genomics 41, 93-99 (1997).
11. McKusick, V.A., Bauer, R.L., Koop, C.E. & Scott, R.B. JAMA 189, 813-816 (1964).
12. Stone, D. et al. Hum. Mol. Genet. 7, 475-481 (1998).
13. Rosenberg, M.J. et al. Am. J. Hum. Genet. 66, 419-427 (2000).
14. McKusick, V.A. Am. J. Hum. Genet. 30, 105-122 (1978).