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Human Genetics

Volumn 116, Issue 3, 2005, Pages 225-227

The USH1C 216G → A splice-site mutation results in a 35-base-pair deletion

(6) Lentz, Jennifer a Savas, Sevtap a Ng, San San a Athas, Grace a Deininger, Prescott b Keats, Bronya a

a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE (United States)

b TULANE UNIVERSITY SCHOOL OF MEDICINE (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; CARRIER PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; USH1C PROTEIN, HUMAN;

ARTICLE; BASE PAIRING; CELL LINE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC STABILITY; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; USHER SYNDROME; AMINO ACID SEQUENCE; GENETICS; HEARING IMPAIRMENT; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; RETINA DEGENERATION; SYNDROME;

IMPLETA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CELL LINE; DEAFNESS; GENE DELETION; HUMANS; MOLECULAR SEQUENCE DATA; RETINAL DEGENERATION; SYNDROME;

EID: 12944270248 PISSN: 03406717 EISSN: None Source Type: Journal
DOI: 10.1007/s00439-004-1217-4 Document Type: Article

Times cited : (29)

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