產(chǎn)品(pǐn)名稱(chēng)：Coriell人類基因組(zǔ)DNA標準(zhǔn)品(GM04364)現貨供應(yīng)

產品(pǐn)貨號：GM04364

產(chǎn)品(pǐn)品牌(pái)：Coriell

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:Yes

Sex:Male

Age:13 YR (At Sampling)

Overview：

Repository:NIGMS Human Genetic Cell Repository

Subcollection:Heritable Diseases  Muscular Dystrophies  GeT-RM Samples dbGaP

Class:Congenital Muscle Diseases

Biopsy Source:Unspecified

Cell Type:Fibroblast

Tissue Type:Skin

Transformant:Untransformed

Sample Source:Fibroblast from Skin, Unspecified

Race:White

Family Member:1

Relation to Proband:proband

Confirmation:Clinical summary/Case history

Species:Homo sapiens

Common Name:Human

Remarks:Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 10; calf hypertrophy; Gower's maneuver; ambulatory at age 10; muscle testing at age 10 showed most muscles to be in fair to poor range but good muscle power demonstrated in hamstrings, posterior and anterior tibs and upper trapezius; at age 10 there were tight heelcords, tightness of the hip flexors, hamstrings and knees; son of GM04363; elevated CPK; muscle biopsy showed classical histological findings of Duchenne muscular dystrophy; donor subject shows a deletion of exons 51-55 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis.

歡(huān)迎訂(dìng)購：

天津益元(yuán)利康(kāng)生物科(kē)技(jì)有限(xiàn)公司(sī)現貨(huò)供應Coriell人(rén)類(lèi)基(jī)因(yīn)組DNA標準(zhǔn)品(pǐn)(GM04364)，歡迎(yíng)選(xuǎn)購！