Mutations in MKKS cause Bardet-Biedl syndrome

被引：207

作者：

Slavotinek, AM

Stone, EM

Mykytyn, K

Heckenlively, JR

Green, JS

Heon, E

Musarella, MA

Parfrey, PS

Sheffield, VC ^{[1
]}

Biesecker, LG

机构：

[1] Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA

[2] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[3] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

[4] Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA

[5] Harbor UCLA Med Ctr, Dept Ophthalmol, Torrance, CA 90509 USA

[6] Mem Univ St Johns, Fac Med, St Johns, NF, Canada

[7] Univ Toronto, Dept Ophthalmol, Toronto, ON M5S 1A1, Canada

[8] Univ Toronto, Vis Sci Res Program, Toronto, ON M5S 1A1, Canada

[9] Long Isl Coll Hosp, Brooklyn, NY 11201 USA

来源：

NATURE GENETICS | 2000年 / 26卷 / 01期

关键词：

D O I：

10.1038/79116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：15 / 16

页数：2

共 14 条

[1] Beales PL, 1999, J MED GENET, V36, P437
[2] Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21
Bruford, EA
Riise, R
Teague, PW
Porter, K
Thomson, KL
Moore, AT
Jay, M
Warburg, M
Schinzel, A
Tommerup, N
Tornqvist, K
Rosenberg, T
Patton, M
Mansfield, DC
Wright, AF
[J]. GENOMICS, 1997, 41 (01) : 93 - 99
[3] USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15
CARMI, R
ROKHLINA, T
KWITEKBLACK, AE
ELBEDOUR, K
NISHIMURA, D
STONE, EM
SHEFFIELD, VC
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 (01) : 9 - 13
[4] David A, 1999, J MED GENET, V36, P599
[5] THE CARDINAL MANIFESTATIONS OF BARDET-BIEDL SYNDROME, A FORM OF LAURENCE-MOON-BIEDL SYNDROME
GREEN, JS
PARFREY, PS
HARNETT, JD
FARID, NR
CRAMER, BC
JOHNSON, G
HEATH, O
MCMANAMON, PJ
OLEARY, E
PRYSEPHILLIPS, W
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1989, 321 (15) : 1002 - 1009
[6] LINKAGE OF BARDET-BIEDL SYNDROME TO CHROMOSOME 16Q AND EVIDENCE FOR NON-ALLELIC GENETIC-HETEROGENEITY
KWITEKBLACK, AE
CARMI, R
DUYK, GM
BUETOW, KH
ELBEDOUR, K
PARVARI, R
YANDAVA, CN
STONE, EM
SHEFFIELD, VC
[J]. NATURE GENETICS, 1993, 5 (04) : 392 - 396
[7] BARDET-BIEDL SYNDROME IS LINKED TO DNA MARKERS ON CHROMOSOME 11Q AND IS GENETICALLY HETEROGENEOUS
LEPPERT, M
BAIRD, L
ANDERSON, KL
OTTERUD, B
LUPSKI, JR
LEWIS, RA
[J]. NATURE GENETICS, 1994, 7 (01) : 108 - 112
[8] MCKUSICK VA, 1978, AM J HUM GENET, V30, P105
[9] MCKUSICK VA, 1964, JAMA-J AM MED ASSOC, V189, P813
[10] Detection of chromosomal aberrations by a whole-genome microsatellite screen
Rosenberg, MJ
Vaske, D
Killoran, CE
Ning, Y
Wargowski, D
Hudgins, L
Tifft, CJ
Meck, J
Blancato, JK
Rosenbaum, K
Pauli, RM
Weber, J
Biesecker, LG
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) : 419 - 427

← 1 2 →