Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

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Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

P2860

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P2860

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

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http://www.wikidata.org/entity/Q38479163

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2004 nî lūn-bûn

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2004年の論文

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2004年論文

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Autosomal dominant Brody disea ...... location in an Italian family.

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Autosomal dominant Brody disea ...... location in an Italian family.

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Autosomal dominant Brody disea ...... location in an Italian family.

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P1476

Autosomal dominant Brody disea ...... location in an Italian family.

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Caterina Ceccarini

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Laura Bernardini

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Pietro Cavalli

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Viviana Caputo

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P2860

A novel synaptobrevin/VAMP homologous protein (VAMP5) is increased during in vitro myogenesis and present in the plasma membrane

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Localization of the 12.6-kDa FK506-binding protein (FKBP12.6) binding site to the NH2-terminal domain of the cardiac Ca2+ release channel (ryanodine receptor)

A novel human gene that is preferentially transcribed in heart muscle

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease

Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

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sj.ejhg.5201200

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scholarly article

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10.1038/SJ.EJHG.5201200

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2004-07-01T00:00:00Z

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Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

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P2860

P2860

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698