Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Human Molecular Genetics

Volumn 24, Issue 2, 2015, Pages 463-470

  Guissart, Claire ^a,b,c   Li, Xiuju ^d   Leheup, Bruno ^e,f   Drouot, Nathalie ^g   Montaut Verient, Bettina ^e   Raffo, Emmanuel ^e,f   Jonveaux, Philippe ^f   Roux, Anne Françoise ^a,c   Claustres, Mireille ^a,b,c   Fliegel, Larry ^d   Koenig, Michel ^a,b,c,g  

^a INSERM   (France)

^b UNIV MONTPELLIER   (France)

^c MONTPELLIER UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF ALBERTA   (Canada)

^e UNIVERSITY HOSPITAL OF NANCY   (France)

^f UNIVERSITÉ DE LORRAINE   (France)

^g UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE; SODIUM PROTON EXCHANGE PROTEIN 1; CATION TRANSPORT PROTEIN; SLC9A1 PROTEIN, HUMAN; SLC9A1 PROTEIN, MOUSE; SODIUM PROTON EXCHANGE PROTEIN;

3' UNTRANSLATED REGION; ADIADOCHOKINESIA; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM VERMIS; CHROMOSOME 1; CHROMOSOME 7; CONSANGUINEOUS MARRIAGE; DEGLYCOSYLATION; DYSKINESIA; DYSMETRIA; EXOME; FEMALE; GENE; GENETIC ASSOCIATION; GENOME ANALYSIS; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; HYPOREFLEXIA; LICHTENSTEIN KNORR SYNDROME; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PH; PHENOTYPE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SLC9A1 GENE; YOUNG ADULT; ANIMAL; FACIES; FIBROUS DYSPLASIA; GENETICS; HEARING IMPAIRMENT; IMMUNE DEFICIENCY; KNOCKOUT MOUSE; METABOLISM; MOUSE; NEUTROPENIA;

METAZOA;

ANIMALS; CATION TRANSPORT PROTEINS; CEREBELLAR ATAXIA; DEAFNESS; FACIES; FEMALE; FIBROUS DYSPLASIA OF BONE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MICE, KNOCKOUT; MUTATION, MISSENSE; NEUTROPENIA; SODIUM-HYDROGEN ANTIPORTER;

EID: 84922475546     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu461     Document Type: Article

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