The first mutation in CNGA2 in two brothers with anosmia

Clinical Genetics

Volumn 88, Issue 3, 2015, Pages 293-296

  Karstensen, H G ^a   Mang, Y ^a   Fark, T ^b   Hummel, T ^b   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF DRESDEN MEDICAL SCHOOL   (Germany)

Author keywords

Cyclic nucleotide gated channel alpha 2; First mutation; Isolated congenital general anosmia; Olfaction

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; CYCLIC NUCLEOTIDE GATED CHANNEL SUBUNIT 2; UNCLASSIFIED DRUG; CNGA2 PROTEIN, HUMAN;

ANOSMIA; ARTICLE; CONGENITAL ANALGESIA; GENE FREQUENCY; GENE MUTATION; HUMAN; INHERITANCE; MEMBRANE DEPOLARIZATION; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; ODOR RECOGNITION TEST; OLFACTORY BULB; OLFACTORY DISCRIMINATION; OLFACTORY EPITHELIUM; PATHOGENESIS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SMELLING; AMINO ACID SEQUENCE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; GENETICS; GENOTYPE; MALE; MOLECULAR GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTION DISORDERS; PATHOLOGY; PEDIGREE; SEQUENCE ALIGNMENT; SIBLING;

MUS;

AMINO ACID SEQUENCE; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLFACTION DISORDERS; OLFACTORY BULB; PEDIGREE; SEQUENCE ALIGNMENT; SIBLINGS;

EID: 84938995766     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12491     Document Type: Article

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