Biology Reference
In-Depth Information
EST
Expressed sequence tag
HUGO
Human Genome Organization
JLNS
Jervell and Lange-Nielsen syndrome
kb
Kilobase pairs
kDa
Kilodaltons
Lod
Logarithm of odds score
MHL
Mixed hearing loss
MIM
Mendelian Inheritance in Man
MRI
Magnetic resonance imaging
NIDCD
National Institute on Deafness and other Communication
Disorders
NSRD
Nonsyndromic recessive deafness
OI
Osteogenesis imperfecta
OMIM
Online Mendelian Inheritance in Man
ORF
Open reading frame
PCR
Polymerase chain reaction
PPK
Palmoplantar keratoderma
RT-PCR
Reverse transcription-polymerase chain reaction
SNHL
Sensorineural hearing loss
SSCP
Single-strand conformation polymorphism
UTR
Untranslated region
WS
Waardenburg syndrome
References
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud
C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J,
Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit
C (1997) A human homologue of the Drosophila eyes absent gene underlies
branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat
Genet 15:157-164.
Abe S, Usami S, Shinkawa H (1997) Three familial cases of hearing loss associated
with enlargement of the vestibular aqueduct.
Ann Otol Rhinol Laryngol
106:1063-1069.
Ackerman MJ (1998) The long QT syndrome: Ion channel diseases of the heart.
Mayo Clin Proc 73:250-269.
Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-
Tamir B (1997) Mutation profile of all 49 exons of the human myosin VIIA gene,
and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum
Genet 61:813-821.
Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH
(1998) Human beta-mannosidase cDNA characterization and first identification
of a mutation associated with human beta-mannosidosis. Hum Mol Genet
7:75-83.
Altmann F, Glasgold A, Macduff JP (1967) The incidence of otosclerosis as related
to race and sex. Ann Otol Rhinol Laryngol 76:377-392.
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