Novel mutations in BBS5 highlight the importance of this gene in non-caucasian Bardet-Biedl syndrome patients [3]

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 517-520

  Hjortshøj, Tina Duelund ^a   Gronskov, Karen ^a   Philp, Alisdair R ^b,c   Nishimura, Darryl Y ^b,c   Adeyemo, Adebowale ^d   Rotimi, Charles N ^d   Sheffield, Val C ^b,c   Rosenberg, Thomas ^e   Brøndum Nielsen, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF IOWA   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d HOWARD UNIVERSITY COLLEGE OF MEDICINE   (United States)

^e National Eye Clinic for the Visually Impaired Denmark   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

BARDET BIEDL SYNDROME; BBS1 GENE; BBS10 GENE; BBS5 GENE; CAUCASIAN; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA DETERMINATION; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; KIDNEY MALFORMATION; LEARNING DISORDER; LETTER; MUTATOR GENE; NUCLEOTIDE SEQUENCE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY;

AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CONSERVED SEQUENCE; CONTINENTAL POPULATION GROUPS; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; FAMILY; GENETIC SCREENING; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS;

EID: 38849157040     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32136     Document Type: Letter

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