PMID- 10447383
OWN - NLM
STAT- MEDLINE
DCOM- 19990812
LR  - 20191210
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 2
DP  - 1999 Aug 19
TI  - Identification of three novel mutations in the MYO7A gene.
PG  - 181
AB  - Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher
      syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in
      exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved 
      in the Usher syndrome Ib phenotype.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Cuevas, J M
AU  - Cuevas JM
AD  - Departament de Genetica, Universitat de Valencia, Valencia, Spain.
FAU - Espinos, C
AU  - Espinos C
FAU - Millan, J M
AU  - Millan JM
FAU - Sanchez, F
AU  - Sanchez F
FAU - Trujillo, M J
AU  - Trujillo MJ
FAU - Ayuso, C
AU  - Ayuso C
FAU - Beneyto, M
AU  - Beneyto M
FAU - Najera, C
AU  - Najera C
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (MYO7A protein, human)
RN  - 0 (Myosin VIIa)
RN  - EC 3.6.4.1 (Myosins)
RN  - EC 3.6.4.2 (Dyneins)
SB  - IM
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 11
MH  - Dyneins
MH  - Female
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Myosin VIIa
MH  - Myosins/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Retinitis Pigmentosa/*genetics
MH  - Syndrome
EDAT- 1999/07/29 00:00
MHDA- 1999/07/29 00:01
CRDT- 1999/07/29 00:00
PHST- 1999/07/29 00:00 [pubmed]
PHST- 1999/07/29 00:01 [medline]
PHST- 1999/07/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU10>3.0.CO;2-6 [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Aug 19;14(2):181. doi:
      10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3.